7089 lines
639 KiB
Text
7089 lines
639 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #232300 - POMPE DISEASE
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=232300"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#232300</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/232300"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
|
|
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#pathogenesis">Pathogenesis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#diagnosis">Diagnosis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalManagement">Clinical Management</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=POMPE DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
|
|
<div id="mimEuroGentestFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21321&Typ=Pat" title="Glycogen storage disease due to acid maltase deficiency, infantile onset" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14&Typ=Pat" title="Glycogen storage disease due to acid maltase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23106&Typ=Pat" title="Glycogen storage disease due to acid maltase deficiency, late-onset" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1261/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/3122" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/condition/pompe-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=232300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
|
|
<div id="mimNewbornScreeningFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Pompe.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Pompe-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
|
|
<div id="mimOrphanetFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308552" title="Glycogen storage disease due to acid maltase deficiency, infantile onset" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=365" title="Glycogen storage disease due to acid maltase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420429" title="Glycogen storage disease due to acid maltase deficiency, late-onset" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/a8519b24-0c62-4f5e-8dcf-4665f0aa4487/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:2752" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/232300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/OMIA000419/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:2752" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 274864009<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> E74.02<br />
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 308552, 365, 420429<br />
|
|
|
|
|
|
<strong>DO:</strong> 2752<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
232300
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
POMPE DISEASE
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLYCOGEN STORAGE DISEASE II; GSD2<br />
|
|
GSD II<br />
|
|
ACID ALPHA-GLUCOSIDASE DEFICIENCY<br />
|
|
GAA DEFICIENCY<br />
|
|
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM<br />
|
|
CARDIOMEGALIA GLYCOGENICA DIFFUSA<br />
|
|
ACID MALTASE DEFICIENCY; AMD<br />
|
|
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014">
|
|
17q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> 232300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GAA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> 606800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/232300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/232300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/232300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macroglossia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25273001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/270516002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">270516002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024421</a>, <a href="https://bioportal.bioontology.org/search?q=C0009677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Tongue,Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Shortened P-R interval on EKG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856352</a>]</span><br /> -
|
|
Huge QRS complexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856353</a>]</span><br /> -
|
|
Wolf-Parkinson-White syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001716</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebral artery aneurysm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128608001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128608001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1290398&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1290398</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory failure due to muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806467</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span><br /> -
|
|
Dyspnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267036007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267036007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230145002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230145002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013404</a>, <a href="https://bioportal.bioontology.org/search?q=C2024878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span><br /> -
|
|
Respiratory infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275498002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275498002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035243</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011947</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diaphragmatic paralysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64228003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64228003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J98.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J98.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551685</a>, <a href="https://bioportal.bioontology.org/search?q=C0035232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035232</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002203" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002203</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0006597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006597</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006597</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714552</a>, <a href="https://bioportal.bioontology.org/search?q=C0004093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span><br /> -
|
|
Proximal muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
|
|
Myopathic pattern on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856351</a>]</span><br /> -
|
|
Firm muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003725</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Abnormal brain myelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673548</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent deep tendon reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Fever of central origin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278157</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> -
|
|
Elevated AST and LDH, especially infantile-onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856348</a>]</span><br /> -
|
|
Presence of vacuoles on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856349</a>]</span><br /> -
|
|
Deficiency of alpha-1,4-glucosidase (acid maltase) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856350</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood<br /> -
|
|
Patients with later onset have better prognosis<br /> -
|
|
Incidence of 1 in 40,000 infants worldwide<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the alpha-1,4-glucosidase gene (GAA, <a href="/entry/606800#0002">606800.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glycogen storage disease
|
|
- <a href="/phenotypicSeries/PS232200">PS232200</a>
|
|
- 24 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> 614921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> PGM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> 171900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIb </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIa </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> Glycogen storage disease IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> 232500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> GBE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> 607839 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763"> 3q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> ?Glycogen storage disease XV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> 613507 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> GYG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> 603942 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> Glycogen storage disease X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> 261670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> PGAM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> 612931 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> Glycogen storage disease of heart, lethal congenital </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> 261740 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> PRKAG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> 602743 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> Glycogen storage disease XI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> 612933 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> LDHA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> 150000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> McArdle disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> 232600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> PYGM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> 608455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> Glycogen storage disease Ic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> 232240 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> Glycogen storage disease Ib </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> 232220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> Glycogen storage disease 0, liver </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> 240600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> GYS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> 138571 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> Glycogen storage disease VII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> 232800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> PFKM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> 610681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> Glycogen storage disease VI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> 232700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> PYGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> 613741 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> Glycogen storage disease XII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> 611881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> ALDOA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> 103850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> Glycogen storage disease IXc </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> 613027 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> PHKG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> 172471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> 261750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> PHKB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> 172490 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> Glycogen storage disease XIII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> 612932 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> ENO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> 131370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> Glycogen storage disease Ia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> 232200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> G6PC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> 613742 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> Glycogen storage disease II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> 232300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> GAA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> 606800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> Glycogen storage disease 0, muscle </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> 611556 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> GYS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> 138570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> Glycogen storage disease, type IXa1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> PHKA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> Glycogen storage disease, type IXa2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> PHKA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/422?start=-3&limit=10&highlight=422"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300559"> Muscle glycogenosis </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300559"> 300559 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311870"> PHKA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311870"> 311870 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Pompe disease, also known as glycogen storage disease II (GSD2), is caused by homozygous or compound heterozygous mutation in the GAA gene (<a href="/entry/606800">606800</a>), which encodes acid alpha-1,4-glucosidase, also known as acid maltase, on chromosome 17q25.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Pompe disease, also known as glycogen storage disease II (GSD2), is the prototypic lysosomal storage disease. In the classic infantile form, cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture (<a href="#59" class="mim-tip-reference" title="Matsuishi, T., Yoshino, M., Terasawa, K., Nonaka, I. <strong>Childhood acid maltase deficiency: a clinical, biochemical, and morphologic study of three patients.</strong> Arch. Neurol. 41: 47-52, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6360103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6360103</a>] [<a href="https://doi.org/10.1001/archneur.1984.04050130053022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6360103">Matsuishi et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6360103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Infantile Onset</em></strong></p><p>
|
|
In classic cases of Pompe disease, affected children are prostrate and markedly hypotonic with large hearts. The tongue may be enlarged. Although the enzyme is deficient in all tissues, muscle weakness and heart involvement are the most common features. The liver is rarely enlarged, except as a result of heart failure, and hypoglycemia and acidosis do not occur as they do in glycogen storage disease I (<a href="/entry/232200">232200</a>). Death usually occurs in the first year of life in the classic form of the disorder and cardiac involvement is striking. Indeed, <a href="#64" class="mim-tip-reference" title="Pompe, J. C. <strong>Over idiopathische hypertrophie van het hart.</strong> Ned. Tijdschr. Geneeskd. 76: 304-312, 1932."None>Pompe (1932)</a> reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.</p><p><a href="#75" class="mim-tip-reference" title="Slonim, A. E., Bulone, L., Ritz, S., Goldberg, T., Chen, A., Martiniuk, F. <strong>Identification of two subtypes of infantile acid maltase deficiency.</strong> J. Pediat. 137: 283-285, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931430</a>] [<a href="https://doi.org/10.1067/mpd.2000.107112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10931430">Slonim et al. (2000)</a> proposed a second, milder subtype of the infantile form. They reported 12 infants who showed less severe cardiomyopathy, absence of left ventricular outflow obstruction, and traces (less than 5%) of residual acid maltase activity; 9 of the 12 had longer survival with assisted ventilation and intubation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#78" class="mim-tip-reference" title="Smith, J., Zellweger, H., Afifi, A. K. <strong>Muscular form of glycogenosis, type II (Pompe).</strong> Neurology 17: 537-549, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5229488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5229488</a>] [<a href="https://doi.org/10.1212/wnl.17.6.537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5229488">Smith et al. (1967)</a> reported a boy with a myotonic form of disease and survival to the age of almost 11 years. The heart was not significantly involved. Alpha-1,4-glucosidase was absent from liver and muscle. There were heavy glycogen deposits and an anomalous polysaccharide with short outer chains was identified. <a href="#77" class="mim-tip-reference" title="Smith, H. L., Amick, L. D., Sidbury, J. B., Jr. <strong>Type II glycogenosis.</strong> Am. J. Dis. Child. 3: 475-481, 1966."None>Smith et al. (1966)</a> reported a similar case in a boy who survived to the age of 4.5 years. <a href="#89" class="mim-tip-reference" title="Zellweger, H., Brown, B. I., McCormick, W. F., Jun-Bi, T. <strong>A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency.</strong> Ann. Paediat. 205: 413-437, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5217754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5217754</a>]" pmid="5217754">Zellweger et al. (1965)</a> described brothers, aged 15 and 4.5 years, with minimal manifestations limited to skeletal muscle. A deficiency of muscle alpha-1,4-glucosidase was demonstrated. Muscle showed abnormal accumulations of glycogen. A maternal uncle may have also been affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5217754+5229488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On analysis of questionnaire data from 255 children and adults with Pompe disease, <a href="#33" class="mim-tip-reference" title="Hagemans, M. L. C., Winkel, L. P. F., Hop, W. C. J., Reuser, A. J. J., Van Doorn, P. A., Van der Ploeg, A. T. <strong>Disease severity in children and adults with Pompe disease related to age and disease duration.</strong> Neurology 64: 2139-2141, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985590</a>] [<a href="https://doi.org/10.1212/01.WNL.0000165979.46537.56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15985590">Hagemans et al. (2005)</a> found that disease severity, including wheelchair use and use of respiratory support, increased with disease duration, but was not related to the age of the patients. However, there was a subset of patients under age 15 years with a more severe disease, requiring increased use of ventilatory support, wheelchair support, and nutritional support. All within this patient subgroup had onset of symptoms within the first 2 years of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Forsha, D., Li, J. S., Smith, P. B., van der Ploeg, A. T., Kishnani, P., Pasquali, S. K. <strong>Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.</strong> Genet. Med. 13: 625-631, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21543987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21543987</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182142966" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21543987">Forsha et al. (2011)</a> studied the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease. Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. ECGs and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Eighty-seven patients were included. Median age was 44 years, and half were men. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in the mild range). There was no change in cardiovascular status associated with enzyme replacement therapy. No significant safety concerns were identified. Although some patients with late-onset Pompe disease had abnormalities on ECG or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21543987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Banugaria, S. G., Prater, S. N., Ng, Y.-K., Kobori, J. A., Finkel, R. S., Ladda, R. L., Chen, Y.-T., Rosenberg, A. S., Kishnani, P. S. <strong>The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.</strong> Genet. Med. 13: 729-736, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21637107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21637107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21637107[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182174703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21637107">Banugaria et al. (2011)</a> retrospectively analyzed 34 infants with Pompe disease; 11 were cross-reactive immunologic material (CRIM)-negative patients; 9 were high-titer CRIM-positive patients; and 14 were low-titer CRIM-positive patients. Clinical outcome measures included survival, ventilator-free survival, left ventricular mass index, the Alberta Infant Motor Scale score, and urine Glc4 levels. Clinical outcomes in the high-titer CRIM-positive group were poor across all areas evaluated relative to the low-titer CRIM-positive group. For the CRIM-negative and high-titer CRIM-positive groups, no statistically significant differences were observed for any outcome measures, and both patient groups did poorly. <a href="#8" class="mim-tip-reference" title="Banugaria, S. G., Prater, S. N., Ng, Y.-K., Kobori, J. A., Finkel, R. S., Ladda, R. L., Chen, Y.-T., Rosenberg, A. S., Kishnani, P. S. <strong>The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.</strong> Genet. Med. 13: 729-736, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21637107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21637107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21637107[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182174703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21637107">Banugaria et al. (2011)</a> concluded that, irrespective of CRIM material status, patients with infantile Pompe disease and high sustained antibody titer have an attenuated therapeutic response to enzyme replacement therapy. <a href="#8" class="mim-tip-reference" title="Banugaria, S. G., Prater, S. N., Ng, Y.-K., Kobori, J. A., Finkel, R. S., Ladda, R. L., Chen, Y.-T., Rosenberg, A. S., Kishnani, P. S. <strong>The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.</strong> Genet. Med. 13: 729-736, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21637107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21637107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21637107[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182174703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21637107">Banugaria et al. (2011)</a> concluded that with the advent of immunomodulation therapies, identification of patients at risk for developing high sustained antibody titer is critical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21637107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., Jones, H. N., Phornphutkul, C., Wang, R. Y., Young, S. P., Kishnani, P. S. <strong>The emerging phenotype of long-term survivors with infantile Pompe disease.</strong> Genet. Med. 14: 800-810, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22538254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22538254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22538254[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2012.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22538254">Prater et al. (2012)</a> described the phenotype of long-term survivors with infantile Pompe disease. Inclusion criteria included ventilator-free status and age less than 6 months at treatment initiation, as well as survival to age greater than 5 years. Eleven of 17 patients met these study criteria; all were CRIM-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and 4 required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. <a href="#66" class="mim-tip-reference" title="Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., Jones, H. N., Phornphutkul, C., Wang, R. Y., Young, S. P., Kishnani, P. S. <strong>The emerging phenotype of long-term survivors with infantile Pompe disease.</strong> Genet. Med. 14: 800-810, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22538254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22538254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22538254[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2012.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22538254">Prater et al. (2012)</a> concluded that long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22538254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Korlimarla, A., Spiridigliozzi, G. A., Crisp, K., Herbert, M., Chen, S., Malinzak, M., Stefanescu, M., Austin, S. L., Cope, H., Zimmerman, K., Jones, H., Provenzale, J. M., Kishnani, P. S. <strong>Novel approaches to quantify CNS involvement in children with Pompe disease.</strong> Neurology 95: e718-e732, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32518148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32518148</a>] [<a href="https://doi.org/10.1212/WNL.0000000000009979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32518148">Korlimarla et al. (2020)</a> examined CNS involvement in 12 children with infantile-onset Pompe disease (IPD) and 2 children with late-onset Pompe disease (LOPD) who were receiving enzyme replacement therapy. They quantified brain white matter hyperintense foci by using the Fazekas scale (FS) grading system to score MRI findings in 10 brain areas. The FS scores were then compared to measurements of cognition and language. In 10 of the 12 children with IPD, with a median age of 10.6 years, mild to severe white matter hyperintense foci were seen. The lesions were seen throughout the corticospinal tracts of the brain. Two children with IPD had no white matter hyperintense foci. There were no significant relationships between total FS scores and age of the patient, anatomic areas of the brain, duration of treatment, duration of disease, or the patients' GAA mutations. No white matter hyperintense foci were seen in the 2 children with LOPD. Ten children with IPD and 2 children with LOPD completed cognitive assessments. Full-scale Wechsler IQ scores in patients with IPD ranged from significantly below average in 3 children to significantly above average in 1 child. These scores were average or above average in the 2 patients with LOPD. CELF-5 scores in patients with IPD on core language, language index, and expressive language index ranged from below average to above average. All language scores were above average in 1 LOPD patient and average and below average in the other LOPD patient. There were no significant relationships between FS scores and standard scores on each cognitive or language domain. <a href="#46" class="mim-tip-reference" title="Korlimarla, A., Spiridigliozzi, G. A., Crisp, K., Herbert, M., Chen, S., Malinzak, M., Stefanescu, M., Austin, S. L., Cope, H., Zimmerman, K., Jones, H., Provenzale, J. M., Kishnani, P. S. <strong>Novel approaches to quantify CNS involvement in children with Pompe disease.</strong> Neurology 95: e718-e732, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32518148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32518148</a>] [<a href="https://doi.org/10.1212/WNL.0000000000009979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32518148">Korlimarla et al. (2020)</a> concluded that characterizing baseline and serial white matter hyperintense lesions in patients with Pompe disease is important for the longitudinal follow-up of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32518148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> reported 4 patients who had onset of clinical features of Pompe disease between 20 days and 20 months of age and were compound heterozygous for the common GAA intron 1 mutation (IVS1-13T-G; <a href="/entry/606800#0006">606800.0006</a>), thought to lead to mild, adult-onset disease, and a different second GAA mutation. All 4 patients had delayed motor development and characteristic posture and movement abnormalities; 2 patients had feeding difficulty, and 2 patients had sleep apnea. None of the patients had cardiac involvement. Despite enzyme replacement therapy, all of the patients had residual muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among a cohort of 41 children with infantile-onset Pompe disease (IPD) on enzyme replacement therapy, <a href="#82" class="mim-tip-reference" title="Tan, Q. K.-G., Stockton, D. W., Pivnick, E., Choudhri, A. F., Hines-Dowell, S., Pena, L. D. M., Deimling, M. A., Freemark, M. S., Kishnani, P. S. <strong>Premature pubarche in children with Pompe disease.</strong> J. Pediat. 166: 1075-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25687635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25687635</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25687635[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jpeds.2014.12.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25687635">Tan et al. (2015)</a> identified 8 who developed precocious pubarche (19.5%), including 4 males and 4 females. Of these, 5 had classic IPD and 3 had atypical IPD. The age at onset of pubarche ranged from 14 months to 4 years 2 months for those with classic IPD; the 3 patients with atypical IPD had a later age of onset at age 7 years. The etiology of precocious pubarche in IPD was unclear. The authors noted that monitoring for sexual development and function is needed for children and adolescents with IPD because premature pubarche can be associated with development of glucose intolerance, insulin resistance, and/or ovarian hyperandrogenism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25687635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Adult Onset</em></strong></p><p>
|
|
<a href="#38" class="mim-tip-reference" title="Hudgson, P., Gardner-Medwin, D., Worsfold, M., Pennington, R. J. T., Walton, J. N. <strong>Adult myopathy from glycogen storage disease due to acid maltase deficiency.</strong> Brain 91: 435-462, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5247277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5247277</a>] [<a href="https://doi.org/10.1093/brain/91.3.435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5247277">Hudgson et al. (1968)</a> reported the case of a Portuguese girl who died at age 19 and that of a living 44-year-old housewife. Other experiences suggesting the existence of more than one type of glycogenosis II were reported by <a href="#81" class="mim-tip-reference" title="Swaiman, K. F., Kennedy, W. R., Sauls, H. S. <strong>Late infantile acid maltase deficiency.</strong> Arch. Neurol. 18: 642-648, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5240358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5240358</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470360064006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5240358">Swaiman et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5247277+5240358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Adult-onset acid maltase deficiency may simulate limb-girdle dystrophy and the only clinical clue may be early involvement of the diaphragm (<a href="#29" class="mim-tip-reference" title="Engel, A. G. <strong>Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.</strong> Brain 93: 599-616, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4918728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4918728</a>] [<a href="https://doi.org/10.1093/brain/93.3.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4918728">Engel, 1970</a>; <a href="#23" class="mim-tip-reference" title="Davis, J., Goldman, M., Loh, L., Casson, M. <strong>Diaphragm function and alveolar hypoventilation.</strong> Quart. J. Med. 45: 87-100, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1062815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1062815</a>]" pmid="1062815">Davis et al., 1976</a>; <a href="#74" class="mim-tip-reference" title="Sivak, E. D., Salanga, V. D., Wilbourn, A. J., Mitsumoto, H., Golish, J. <strong>Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis.</strong> Ann. Neurol. 9: 613-615, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6789760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6789760</a>] [<a href="https://doi.org/10.1002/ana.410090618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6789760">Sivak et al., 1981</a>). <a href="#84" class="mim-tip-reference" title="Trend, P. St. J., Wiles, C. M., Spencer, G. T., Morgan-Hughes, J. A., Lake, B. D., Patrick, A. D. <strong>Acid maltase deficiency in adults: diagnosis and management in five cases.</strong> Brain 108: 845-860, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3865697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3865697</a>] [<a href="https://doi.org/10.1093/brain/108.4.845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3865697">Trend et al. (1985)</a> reported 4 of 5 patients who presented with acute respiratory insufficiency or chronic nocturnal ventilatory insufficiency. They reported that long-term domiciliary ventilatory support using a rocking bed or intermittent positive pressure respirations with a tracheostomy permitted patients to return to work. <a href="#61" class="mim-tip-reference" title="Molho, M., Katz, I., Schwartz, E., Shemesh, Y., Sadeh, M., Wolf, E. <strong>Familial bilateral paralysis of diaphragm: adult onset.</strong> Chest 91: 466-467, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3816327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3816327</a>] [<a href="https://doi.org/10.1378/chest.91.3.466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3816327">Molho et al. (1987)</a> reported the cases of monozygotic twin brothers who at age 50 developed bilateral paralysis of the diaphragm. Severe dyspnea in the supine position necessitated mechanical ventilation by pneumobelts during the night. The possibility of adult acid maltase deficiency should be considered in these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6789760+3865697+3816327+4918728+1062815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Francesconi, M., Auff, E. <strong>Cardiac arrhythmias and the adult form of type II glycogenosis. (Letter)</strong> New Eng. J. Med. 306: 937-938, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6950223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6950223</a>] [<a href="https://doi.org/10.1056/NEJM198204153061515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6950223">Francesconi and Auff (1982)</a> described Wolff-Parkinson-White syndrome (<a href="/entry/194200">194200</a>) and second-degree atrioventricular block in a patient with the adult form of glycogenosis II. <a href="#20" class="mim-tip-reference" title="Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A. <strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong> Brain 109: 523-536, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>] [<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3087571">Byrne et al. (1986)</a> stated that 'cardiac involvement has only been reported in 1 patient with noninfantile acid maltase deficiency.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3087571+6950223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Makos, M. M., McComb, R. D., Hart, M. N., Bennett, D. R. <strong>Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship.</strong> Ann. Neurol. 22: 629-633, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322184</a>] [<a href="https://doi.org/10.1002/ana.410220512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3322184">Makos et al. (1987)</a> described 3 brothers with alpha-glucosidase deficiency, each of whom developed a fusiform basilar artery aneurysm as young adults, which was complicated by fatal rupture in 2 of them and by a cerebellar infarction in the third. Postmortem examination demonstrated severe vacuolization of skeletal muscle, liver, and vascular smooth muscle with accumulation of glycogen. In the surviving brother, similar glycogen deposition was demonstrated in the smooth muscle of the superficial temporal artery. Glycogen deposition in vascular smooth muscle had been demonstrated previously in this disorder but had not been considered clinically significant. One of the brothers had onset of weakness at age 19, demonstration at age 27 of basilar artery aneurysm by cerebral angiography, which was performed because of throbbing, occipital headaches, and, at age 32, cerebellar infarction. He had 2 sons who were normal. The patients in this family had normal alpha-glucosidase activity in leukocytes but barely detectable alpha-glucosidase in muscle homogenates at acid pH. <a href="#48" class="mim-tip-reference" title="Kretzschmar, H. A., Wagner, H., Hubner, G., Danek, A., Witt, T. N., Mehraein, P. <strong>Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.</strong> J. Neurol. Sci. 98: 169-183, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243227</a>] [<a href="https://doi.org/10.1016/0022-510x(90)90258-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243227">Kretzschmar et al. (1990)</a> described a 40-year-old male with adult acid maltase deficiency who, in addition to involvement of the liver and skeletal muscles, had extensive involvement of large and small cerebral arteries with aneurysm formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3322184+2243227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Chancellor, A. M., Warlow, C. P., Webb, J. N., Lucas, M. G., Besley, G. T. N., Broadhead, D. M. <strong>Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. (Letter)</strong> J. Neurol. Neurosurg. Psychiat. 54: 659-660, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1895140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1895140</a>] [<a href="https://doi.org/10.1136/jnnp.54.7.659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1895140">Chancellor et al. (1991)</a> described the case of a 68-year-old man who first developed difficulty walking at the age of 65 and for several months had experienced urinary incontinence with exercise. <a href="#21" class="mim-tip-reference" title="Chancellor, A. M., Warlow, C. P., Webb, J. N., Lucas, M. G., Besley, G. T. N., Broadhead, D. M. <strong>Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. (Letter)</strong> J. Neurol. Neurosurg. Psychiat. 54: 659-660, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1895140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1895140</a>] [<a href="https://doi.org/10.1136/jnnp.54.7.659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1895140">Chancellor et al. (1991)</a> pointed out that many patients with detrusor instability remain asymptomatic, probably because they augment urethral closure pressure by increasing striatal muscle activity in the sphincter mechanism. They postulated that the inability to withstand increases in detrusor pressure only occurred because of striated pelvic floor muscle fatigue associated with exercise. Alternatively, there may have been a neurogenic component in the muscle weakness because of involvement of spinal motor neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1895140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#51" class="mim-tip-reference" title="Laforet, P., Nicolino, M., Eymard, B., Puech, J. P., Caillaud, C., Poenaru, L., Fardeau, M. <strong>Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.</strong> Neurology 55: 1122-1128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11071489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11071489</a>] [<a href="https://doi.org/10.1212/wnl.55.8.1122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11071489">Laforet et al. (2000)</a> reported the clinical features of 21 unrelated patients with juvenile- or adult-onset GAA deficiency. The mean age at onset of obvious muscle complaints was 36 years, although most patients (16 of 21) reported mild muscular symptoms since childhood, including scapular winging, scoliosis, and difficulty running. Most patients had predominant involvement of pelvic girdle muscles without significant distal leg involvement. Eight (40%) patients had severe respiratory muscle involvement, which was not correlated with the severity of limb muscle weakness. Biochemical studies showed residual GAA activity in leukocytes ranging from 0 to 17% of normal values; there was no correlation between leukocyte GAA activity and clinical severity. Genetic analysis identified the common intron 1 mutation in the GAA gene (IVS1-13T-G; <a href="/entry/606800#0006">606800.0006</a>) in 17 patients (16 compound heterozygotes and 1 homozygote). There were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11071489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H. <strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong> Neurology 64: 368-370, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149528.95362.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668445">Anneser et al. (2005)</a> reported a 30-year-old woman with alpha-glucosidase deficiency confirmed by mutation in the GAA gene (<a href="/entry/606800#0016">606800.0016</a>; <a href="/entry/606800#0017">606800.0017</a>). She presented with a 4-year history of progressive proximal muscle weakness, and examination showed marked vacuolar myopathy, marked reduction in GAA enzyme activity, increased serum creatine kinase, and increased transaminase levels. After diagnosis, she experienced 3 stroke-like episodes within 3 months. Brain CT showed dilatative angiopathy of the intracerebral vessels, especially of the basilar artery, with calcifications of the carotid and medial cerebral arteries. MRI showed several white matter lesions. She had no other additional risk factors for atherosclerosis. <a href="#4" class="mim-tip-reference" title="Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H. <strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong> Neurology 64: 368-370, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149528.95362.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668445">Anneser et al. (2005)</a> suggested that similar extramuscular vascular changes may be the most relevant prognostic factor for adult patients with slowly progressive Pompe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Groen, W. B., Leen, W. G., Vos, A. M. C., Cruysberg, J. R. M., van Doorn, P. A., van Engelen, B. G. M. <strong>Ptosis as a feature of late-onset glycogenosis type II.</strong> Neurology 67: 2261-2262, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190962</a>] [<a href="https://doi.org/10.1212/01.wnl.0000249183.39952.3e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190962">Groen et al. (2006)</a> found that 4 (33%) of 12 patients with adult-onset GSD II had ptosis, which was the presenting feature in 3 patients. Six (50%) of the 12 had measurable evidence of decreased levator palpebral muscle function. The prevalence of ptosis was significantly higher in patients compared to the general population, suggesting that it may be considered a clinical feature of adult-onset GSD II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17190962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Jones, H. N., Hobson-Webb, L. D., Kuchibhatia, M., Crisp, K. D., Whyte-Rayson, A., Batten, M. T., Zwelling, P. J., Kishnani, P. S. <strong>Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.</strong> Molec. Genet. Metab. 133: 261-268, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34053870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34053870</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.05.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34053870">Jones et al. (2021)</a> assessed the tongue phenotype of 70 individuals with LOPD, including 10 individuals who had never received treatment, compared to 30 individuals with other forms of myopathy and 30 individuals with neuropathy. Patients with LOPD had reduced maximal lingual strength compared to individuals with other myopathies and individuals with neuropathy. Patients with LOPD also had reduced tongue muscle thickness as measured by ultrasound compared to individuals with other myopathies and individuals with neuropathy, suggesting fibrofatty replacement and muscle atrophy in LOPD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34053870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Huggins, E., Holland, M., Case, L. E., Blount, J., Landstrom, A. P., Jones, H. N., Kishnani, P. S. <strong>Early clinical phenotype of late onset Pompe disease: lessons learned from newborn screening.</strong> Molec. Genet. Metab. 135: 179-185, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35123877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35123877</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35123877">Huggins et al. (2022)</a> reported clinical features in 20 patients, aged 6 to 21 months, who were diagnosed with LOPD. All 20 patients were initially detected due to abnormal newborn screening and found to have mutations in the GAA gene. Four patients were homozygous for the c.-32-13T-G (<a href="/entry/606800#0006">606800.0006</a>) mutation and 14 were heterozygous for the c.-32-13T-G mutation and a second mutation. None of the patients had cardiomyopathy or cardiac rhythm abnormalities. Laboratory abnormalities included increased CK, AST, and ALT in 8 patients and increased urine Glc4 in 2 patients. Nine patients, including the 4 patients who were homozygous for the c.-32-13T-G mutation, had normal CK, AST, and ALT. All of the patients had abnormal postural and kinematic findings, and the most common abnormalities included lack of appropriate use of hip extensors, increased hip external rotation while sitting, and tight iliotibial bands. Nine patients had mild feeding and swallowing impairment, but signs of dysphagia and aspiration were mild. <a href="#39" class="mim-tip-reference" title="Huggins, E., Holland, M., Case, L. E., Blount, J., Landstrom, A. P., Jones, H. N., Kishnani, P. S. <strong>Early clinical phenotype of late onset Pompe disease: lessons learned from newborn screening.</strong> Molec. Genet. Metab. 135: 179-185, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35123877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35123877</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.01.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35123877">Huggins et al. (2022)</a> concluded that there is a great amount of clinical variability among patients with LOPD and that patients should be closely monitored for progression of symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35123877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
|
|
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#47" class="mim-tip-reference" title="Koster, J. F., Busch, H. F. M., Slee, R. G., van Weerden, T. W. <strong>Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.</strong> Clin. Chim. Acta 87: 451-453, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28188</a>] [<a href="https://doi.org/10.1016/0009-8981(78)90191-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28188">Koster et al. (1978)</a> and <a href="#53" class="mim-tip-reference" title="Loonen, M. C. B., Busch, H. F. M., Koster, J. F., Martin, J. J., Niermeijer, M. F., Schram, A. W., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M. <strong>A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.</strong> Neurology 31: 1209-1216, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6810200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6810200</a>] [<a href="https://doi.org/10.1212/wnl.31.10.1209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6810200">Loonen et al. (1981)</a> described a grandfather with acid maltase deficiency leading to difficulty climbing stairs after age 52, and a granddaughter with typical Pompe disease leading to death at 16 weeks. The muscle of both subjects showed residual activity. It seems likely that the grandfather was a genetic compound. In this same family, <a href="#37" class="mim-tip-reference" title="Hoefsloot, L. H., van der Ploeg, A. T., Kroos, M. A., Hoogeveen-Westerveld, M., Oostra, B. A., Reuser, A. J. J. <strong>Adult and infantile glycogenosis type II in one family, explained by allelic diversity.</strong> Am. J. Hum. Genet. 46: 45-52, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2403755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2403755</a>]" pmid="2403755">Hoefsloot et al. (1990)</a> showed that 3 sibs were homozygous for an allele that caused complete deficiency of acid alpha-glucosidase; these patients had a severe infantile form of the disease. The eldest patient in the family, with very mild clinical symptoms, was shown to be a compound heterozygote for this allele and for a second allele characterized by a reduced net production of catalytically active acid alpha-glucosidase, resulting in partial enzyme deficiency. The mutant alleles were segregated in human-mouse somatic cell hybrids to investigate their individual function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28188+6810200+2403755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Danon, M. J., DiMauro, S., Shanske, S., Archer, F. L., Miranda, A. F. <strong>Juvenile-onset acid maltase deficiency with unusual familial features.</strong> Neurology 36: 818-822, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3084996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3084996</a>] [<a href="https://doi.org/10.1212/wnl.36.6.818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3084996">Danon et al. (1986)</a> also reported instances of the probable genetic compound state. <a href="#63" class="mim-tip-reference" title="Nishimoto, J., Inui, K., Okada, S., Ishigami, W., Hirota, S., Yamano, T., Yabuuchi, H. <strong>A family with pseudodeficiency of acid alpha-glucosidase.</strong> Clin. Genet. 33: 254-261, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3282727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3282727</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03446.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3282727">Nishimoto et al. (1988)</a> described a family in which the proband, aged 15, had the juvenile muscular dystrophy form of glycogenosis type II, whereas both parents and 2 sisters had pseudodeficiency of acid alpha-glucosidase. It was almost impossible to distinguish the homozygote from the heterozygous members by lymphocyte assays alone. Both parents may have been compound heterozygotes for the pseudodeficiency allele and the allele for the juvenile form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3084996+3282727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Allelic heterogeneity was demonstrated further by the patient reported by <a href="#80" class="mim-tip-reference" title="Suzuki, Y., Tsuji, A., Omura, K., Nakamura, G., Awa, S., Kroos, M., Reuser, A. J. J. <strong>Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.</strong> Clin. Genet. 33: 376-385, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3288378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3288378</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03465.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3288378">Suzuki et al. (1988)</a>: a male developed cardiomyopathy at 12 years of age and died of heart failure at age 15 years without any sign of skeletal muscle involvement, either clinically or histologically. A Km mutant of acid alpha-glucosidase was demonstrated. <a href="#40" class="mim-tip-reference" title="Iancu, T. C., Lerner, A., Shiloh, H., Bashan, N., Moses, S. <strong>Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.</strong> Europ. J. Pediat. 147: 372-376, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135192</a>] [<a href="https://doi.org/10.1007/BF00496413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3135192">Iancu et al. (1988)</a> described an affected 12-year-old boy who presented with a right lumbar mass which appeared to represent local pseudohypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3288378+3135192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="pathogenesis" class="mim-anchor"></a>
|
|
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>The defect in type II glycogen storage disease involves acid alpha-1,4-glucosidase (acid maltase), a lysosomal enzyme. Whereas the glycogen is distributed rather uniformly in the cytoplasm in the other glycogen storage diseases (e.g., GSD I; <a href="/entry/232200">232200</a>), it is enclosed in lysosomal membranes in this form.</p><p>In a case of infantile acid alpha-glucosidase deficiency, <a href="#13" class="mim-tip-reference" title="Beratis, N. G., LaBadie, G. U., Hirschhorn, K. <strong>Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.</strong> J. Clin. Invest. 62: 1264-1274, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34626</a>] [<a href="https://doi.org/10.1172/JCI109247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34626">Beratis et al. (1978)</a> concluded that the defect was a structural mutation causing synthesis of a catalytically inactive, cross-reacting material (CRM)-positive, enzyme protein. On the other hand, the mutation in the adult form causes a reduction in the amount of enzyme protein. Of 9 fibroblast lines from patients with the infantile form of acid alpha-glucosidase deficiency, <a href="#14" class="mim-tip-reference" title="Beratis, N. G., LaBadie, G. U., Hirschhorn, K. <strong>Genetic heterogeneity in acid alpha-glucosidase deficiency.</strong> Am. J. Hum. Genet. 35: 21-33, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401921</a>]" pmid="6401921">Beratis et al. (1983)</a> found that 8 were CRM-negative and 1 was CRM-positive. No difference in apparent enzyme activity was detected between the 2 forms. In 2 fibroblast strains from the adult form, rocket immunoelectrophoresis showed a reduction in the amount of enzyme protein that was directly proportional to the reduction in enzyme activity. In another 'adult' fibroblast line, enzyme activity was in the same range as in the infantile form and no CRM was identified. Fibroblasts with phenotype 2 of acid alpha-glucosidase, considered a normal variant, showed reduction both in the amount of enzyme protein and in the ability to cleave glycogen; catalytic activity for maltose was normal, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6401921+34626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Reuser, A. J. J., Koster, J. F., Hoogeveen, A., Galjaard, H. <strong>Biochemical, immunological and cell genetic studies in glycogenosis type II.</strong> Am. J. Hum. Genet. 30: 132-143, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350041</a>]" pmid="350041">Reuser et al. (1978)</a> studied fibroblasts from the infantile, juvenile, and adult forms of acid alpha-glucosidase deficiency. An inverse correlation was found between the severity of clinical manifestations and the level of residual enzyme activity in fibroblasts. The kinetic and electrophoretic properties of residual enzyme in fibroblasts from adult patients were identical to those from controls. The mutation may, therefore, affect the production or degradation of enzyme rather than its catalytic function. Complementation studies by fusion of fibroblasts from different types yielded no sign of nonallelism of the several forms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=350041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#70" class="mim-tip-reference" title="Reuser, A. J. J., Kroos, M., Willemsen, R., Swallow, D., Tager, J. M., Galjaard, H. <strong>Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.</strong> J. Clin. Invest. 79: 1689-1699, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3108320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3108320</a>] [<a href="https://doi.org/10.1172/JCI113008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3108320">Reuser et al. (1987)</a> investigated the nature of the acid alpha-glucosidase deficiency in cultured fibroblasts from 30 patients. Deficiency of catalytically active mature enzyme in lysosomes was common to all clinical phenotypes but, in most cases, was more profound in early-onset than in late-onset forms of the disease. The role of secondary factors cannot be excluded, however, because 3 adult patients were found with very low activity and little enzyme in the lysosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3108320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#3" class="mim-tip-reference" title="Angelini, C., Engel, A. G., Titus, J. L. <strong>Adult acid maltase deficiency: abnormalities in fibroblasts cultured from patients.</strong> New Eng. J. Med. 287: 948-951, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4507329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4507329</a>] [<a href="https://doi.org/10.1056/NEJM197211092871902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4507329">Angelini et al. (1972)</a> showed that the adult form of the disease can be diagnosed in cultured skin fibroblasts. <a href="#5" class="mim-tip-reference" title="Askanas, V., Engel, W. K., DiMauro, S., Brooks, B. R., Mehler, M. <strong>Adult-onset acid maltase deficiency: morphologic and biochemical abnormalities reproduced in cultured muscle.</strong> New Eng. J. Med. 294: 573-578, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1060914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1060914</a>] [<a href="https://doi.org/10.1056/NEJM197603112941102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1060914">Askanas et al. (1976)</a> established muscle tissue cultures from a 34-year-old patient with the adult-onset myopathy. Morphologically and biochemically, the newly grown fibers of cultured muscle showed the same changes as did biopsied muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4507329+1060914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Ausems, M. G. E. M., Lochman, P., van Diggelen, O. P., Ploos van Amstel, H. K., Reuser, A. J. J., Wokke, J. H. A. <strong>A diagnostic protocol for adult-onset glycogen storage disease type II.</strong> Neurology 52: 851-853, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078739</a>] [<a href="https://doi.org/10.1212/wnl.52.4.851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10078739">Ausems et al. (1999)</a> found that creatine kinase (CK) elevation is a sensitive marker of GSD II. CK levels were elevated in all 18 patients in their cohort and in 94.3% of GSD II patients reported in the literature. They proposed a diagnostic protocol for adult-onset GSD II. In patients presenting with a slowly progressive proximal muscle weakness or with respiratory insufficiency, they recommended measurement of serum levels of CK, followed by measurement of acid alpha-glucosidase activity in leukocytes, using glycogen as a substrate. To rule out the pseudodeficiency state seen in carriers of the GAA2 allele, they recommended that patients with depressed leukocyte activity have a repeat assay in cultured fibroblasts using artificial substrate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10078739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Kallwass, H., Carr, C., Gerrein, J., Titlow, M., Pomponio, R., Bali, D., Dai, J., Kishnani, P., Skrinar, A., Corzo, D., Keutzer, J. <strong>Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.</strong> Molec. Genet. Metab. 90: 449-452, 2007. Note: Erratum: Molec. Genet. Metab. 92: 285 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17270480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17270480</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17270480">Kallwass et al. (2007)</a> reported a simple and reliable method to measure alpha-glucosidase activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to eliminate isoenzyme interference. The authors demonstrated that this method efficiently detected late-onset Pompe patients who were frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17270480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A. <strong>Diagnosis of glycogenosis type II.</strong> Neurology 71: S4-S11, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19047572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19047572</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31818da91e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19047572">Bembi et al. (2008)</a> provided a detailed guide to the diagnosis of GSD II, with emphasis on the importance of early recognition of clinical manifestations. Diagnosis is confirmed by biochemical assays showing absent or decreased GAA enzyme and enzyme activity in peripheral blood cells, skin fibroblasts, or muscle biopsy. Affected adults usually present with skeletal muscle weakness and cramps and may often have respiratory failure. Progression is usually slow. Muscle imaging may be useful to assess the extent of involvement in older patients. Affected infants can present with hypertrophic cardiomyopathy in the first months of life and show rapid progression, often leading to death within the first 2 years. Patients with juvenile onset have a more attenuated course compared to infantile onset, and do not have cardiomyopathy. Other features include generalized hypotonia and hepatomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19047572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalManagement" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#76" class="mim-tip-reference" title="Slonim, A. E., Coleman, R. A., McElligot, M. A., Najjar, J., Hirschhorn, K., Labadie, G. U., Mrak, R., Evans, O. B., Shipp, E., Presson, R. <strong>Improvement of muscle function in acid maltase deficiency by high-protein therapy.</strong> Neurology 33: 34-38, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401355</a>] [<a href="https://doi.org/10.1212/wnl.33.1.34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6401355">Slonim et al. (1983)</a> and <a href="#56" class="mim-tip-reference" title="Margolis, M. L., Hill, A. R. <strong>Acid maltase deficiency in an adult: evidence for improvement in respiratory function with high-protein dietary therapy.</strong> Am. Rev. Resp. Dis. 134: 328-331, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090917</a>] [<a href="https://doi.org/10.1164/arrd.1986.134.2.328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3090917">Margolis and Hill (1986)</a> concluded that a high-protein diet is effective therapy in adults with acid maltase deficiency. Striking improvement in respiratory function was observed. The effect was serendipitously discovered when a high-protein diet for weight reduction was given. Correction of obesity was not thought to be the exclusive or even the major mechanism of the respiratory improvement. <a href="#41" class="mim-tip-reference" title="Isaacs, H., Savage, N., Badenhorst, M., Whistler, T. <strong>Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.</strong> J. Neurol. Neurosurg. Psychiat. 49: 1011-1018, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3093639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3093639</a>] [<a href="https://doi.org/10.1136/jnnp.49.9.1011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3093639">Isaacs et al. (1986)</a> observed benefit from a high-protein, low-carbohydrate diet in a patient with adult acid maltase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3093639+6401355+3090917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Amalfitano, A., Bengur, A. R., Morse, R. P., Majure, J. M., Case, L. E., Veerling, D. L., Mackey, J., Kishnani, P., Smith, W., McVie-Wylie, A., Sullivan, J. A., Hoganson, G. E., Phillips, J. A., III, Schaefer, G. B., Charrow, J., Ware, R. E., Bossen, E. H., Chen, Y.-T. <strong>Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.</strong> Genet. Med. 3: 132-138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286229</a>]" pmid="11286229">Amalfitano et al. (2001)</a> reported the results of a phase I/II open-label single-dose study of recombinant human alpha-glucosidase infused intravenously twice weekly in 3 infants with infantile GSD II. The results of more than 250 infusions showed that recombinant human GAA was generally well tolerated. Steady decreases in heart size and maintenance of normal cardiac function for more than 1 year were observed in all 3 infants. These infants lived well past the critical age of 1 year (16, 18, and 22 months old at the time of this study) and continued to have normal cardiac function. Improvements of skeletal muscle functions were also noted; 1 patient showed marked improvement and had normal muscle tone and strength as well as normal neurologic and developmental evaluations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#85" class="mim-tip-reference" title="van den Hout, H. M. P., Hop, W., van Diggelen, O. P., Smeitink, J. A. M., Smit, G. P. A., Poll-The, B.-T. T., Bakker, H. D., Loonen, M. C. B., de Klerk, J. B. C., Reuser, A. J. J., van der Ploeg, A. T. <strong>The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.</strong> Pediatrics 112: 332-340, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897283</a>] [<a href="https://doi.org/10.1542/peds.112.2.332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897283">Van den Hout et al. (2003)</a> studied the natural course of infantile Pompe disease in 20 Dutch patients and reviewed the findings in 133 published cases. They concluded that survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A. <strong>Management and treatment of glycogenosis type II.</strong> Neurology 71: S12-S36, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19047571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19047571</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31818da93f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19047571">Bembi et al. (2008)</a> provided a detailed review of the clinical management of GSD II and emphasized a multidisciplinary approach. Enzyme replacement therapy with alglucosidase-alpha has been shown to be effective, particularly in infants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19047571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#87" class="mim-tip-reference" title="Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R. <strong>Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.</strong> Genet. Med. 13: 457-484, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21502868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21502868</a>] [<a href="https://doi.org/10.1097/GIM.0b013e318211a7e1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21502868">Wang et al. (2011)</a> described the ACMG standards and guidelines for the diagnostic confirmation and management of presymptomatic individuals with lysosomal storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21502868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="inheritance" class="mim-anchor"></a>
|
|
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Glycogen storage disease type II is inherited as an autosomal recessive trait.</p><p><a href="#79" class="mim-tip-reference" title="Smith, W. E., Sullivan-Saarela, J. A., Li, J. S., Cox, G. F., Corzo, D., Chen, Y.-T., Kishnani, P. S. <strong>Sibling phenotype concordance in classical infantile Pompe disease.</strong> Am. J. Med. Genet. 143A: 2493-2501, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853454</a>] [<a href="https://doi.org/10.1002/ajmg.a.31936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17853454">Smith et al. (2007)</a> studied sib phenotype discordance in classic infantile Pompe disease by reviewing the medical literature for affected sibships in which at least 1 sib had clinical or biochemical findings consistent with infantile Pompe disease, including symptoms beginning in infancy, early hypotonia, cardiomegaly by 6 months of age, and early death. Since 1931, the literature has documented 13 families with 31 affected infants (11 probands; 20 affected sibs). The median age at symptom onset for all affected infants was 3 months (range, 0-6 months) with a significant correlation between probands and affected sibs (R = 0.60, p = 0.04). The median age at death for all affected infants was 6 months (range, 1.5-13 months); probands were slightly older at death than their sibs. The median length of disease course for all affected infants was 3 months (range, 0-10 months) and was slightly longer for probands. There was phenotypic concordance, particularly with respect to cardiomyopathy. <a href="#79" class="mim-tip-reference" title="Smith, W. E., Sullivan-Saarela, J. A., Li, J. S., Cox, G. F., Corzo, D., Chen, Y.-T., Kishnani, P. S. <strong>Sibling phenotype concordance in classical infantile Pompe disease.</strong> Am. J. Med. Genet. 143A: 2493-2501, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853454</a>] [<a href="https://doi.org/10.1002/ajmg.a.31936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17853454">Smith et al. (2007)</a> concluded that there is minimal phenotypic and life span variation among sibs with infantile Pompe disease, which is important for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17853454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Multiple mutations in the acid maltase gene have been shown to cause glycogen storage disease II. <a href="#57" class="mim-tip-reference" title="Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R. <strong>Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.</strong> Am. J. Hum. Genet. 47: 440-445, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2203258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2203258</a>]" pmid="2203258">Martiniuk et al. (1990)</a> demonstrated a single basepair substitution of G to A at position 271 (<a href="/entry/606800#0001">606800.0001</a>). <a href="#88" class="mim-tip-reference" title="Wokke, J. H. J., Ausems, M. G. E. M., van den Boogaard, M.-J. H., Ippel, E. F., van Diggelen, O., Kroos, M. A., Boer, M., Jennekens, F. G. I., Reuser, A. J. J., Ploos van Amstel, H. K. <strong>Genotype-phenotype correlation in adult-onset acid maltase deficiency.</strong> Ann. Neurol. 38: 450-454, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668832</a>] [<a href="https://doi.org/10.1002/ana.410380316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7668832">Wokke et al. (1995)</a> found a single mutation in intron 1 of the acid maltase (<a href="/entry/606800#0006">606800.0006</a>) in 16 patients with adult-onset acid maltase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2203258+7668832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Lam, C. W., Yuen, Y. P., Chan, K. Y., Tong, S. F., Lai, C. K., Chow, T. C., Lee, K. C., Chan, Y. W., Martiniuk, F. <strong>Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.</strong> Neurology 60: 715-717, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601120</a>] [<a href="https://doi.org/10.1212/01.wnl.0000048661.95327.bf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12601120">Lam et al. (2003)</a> reported compound heterozygosity for mutations in the GAA gene in a 16-year-old Chinese boy with juvenile-onset GSD II. The patient had mild symptoms in early childhood, but his condition worsened at age 12 years, with severe weakness, sleep-disordered breathing, and respiratory difficulties. His asymptomatic 13-year-old brother, who had the same mutations, had only biochemical abnormalities suggestive of disease (elevated CK, lack of GAA activity in leukocytes). The authors commented on the intrafamilial variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12601120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Amartino, H., Painceira, D., Pomponio, R. J., Niizawa, G., Sabio Paz, V., Blanco, M., Chamoles, N. <strong>Two clinical forms of glycogen-storage disease type II in two generations of the same family. (Letter)</strong> Clin. Genet. 69: 187-188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16433701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16433701</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00557.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16433701">Amartino et al. (2006)</a> reported severe infantile and asymptomatic adult forms of GSD II in 2 generations of the same family. The proband was a 2-month-old male infant of nonconsanguineous Argentinian parents who was admitted to the hospital at 5 days with cyanosis and found to have cardiomegaly, an elevated CK level, high-voltage QRS complexes on ECG, and a thick interventricular septum and hypertrophic ventricular walls on echocardiogram. Pompe disease was suspected and confirmed by measuring GAA activity in leukocytes, and <a href="#2" class="mim-tip-reference" title="Amartino, H., Painceira, D., Pomponio, R. J., Niizawa, G., Sabio Paz, V., Blanco, M., Chamoles, N. <strong>Two clinical forms of glycogen-storage disease type II in two generations of the same family. (Letter)</strong> Clin. Genet. 69: 187-188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16433701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16433701</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00557.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16433701">Amartino et al. (2006)</a> identified homozygosity for mutations in the GAA gene, inherited from the parents, respectively. The asymptomatic father was found to have a second mutation on his other allele, the common adult-onset IVS1 splice site mutation (IVS1-13T-G; <a href="/entry/606800#0006">606800.0006</a>). Subsequent evaluation revealed a normal physical examination with no neuromuscular complaints and normal ECG and echocardiogram, but he had elevated CK, short duration potentials on electromyography, and reductions in maximal expiratory and inspiratory pressures on spirometry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16433701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 40 Italian patients with late-onset GSD II, <a href="#62" class="mim-tip-reference" title="Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M. G. <strong>Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.</strong> Hum. Mutat. 27: 999-1006, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16917947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16917947</a>] [<a href="https://doi.org/10.1002/humu.20374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16917947">Montalvo et al. (2006)</a> identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was the IVS1-13T-G mutation, present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16917947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 84 patients with GSD II who had the common GAA IVS1-13T-G mutation, <a href="#34" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> identified 4 patients with different second mutations in GAA who had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). <a href="#34" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modifier Genes</em></strong></p><p>
|
|
<a href="#24" class="mim-tip-reference" title="de Filippi, P., Ravaglia, S., Bembi, B., Costa, A., Moglia, A., Piccolo, G., Repetto, A., Dardis, A., Greco, G., Ciana, G., Canevari, F., Danesino, C. <strong>The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.</strong> Genet. Med. 12: 206-211, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20308911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20308911</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181d2900e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20308911">De Filippi et al. (2010)</a> studied 38 patients with late-onset Pompe disease, aged 44.6 +/- 19.8 years, and compared the distribution of angiotensin I-converting enzyme (ACE) polymorphism (<a href="/entry/106180#0001">106180.0001</a>) according to demographic and disease parameters. The distribution of ACE polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The 3 groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P = 0.041), higher creatine kinase levels at diagnosis (P = 0.024), presence of muscle pain (P = 0.014), and more severe rate of disease progression (P = 0.037, analysis of variance test for interaction). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20308911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In Israel, almost all cases of Pompe disease have occurred in Palestinian Arabs (<a href="#9" class="mim-tip-reference" title="Bashan, N., Potashnik, R., Barash, V., Gutman, A., Moses, S. W. <strong>Glycogen storage disease type II in Israel.</strong> Isr. J. Med. Sci. 24: 224-227, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3132435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3132435</a>]" pmid="3132435">Bashan et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3132435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of Hardy-Weinberg equilibrium and the fact that 7 mutations they tested represented only 29% of the total, <a href="#58" class="mim-tip-reference" title="Martiniuk, F., Chen, A., Mack, A., Arvanitopoulos, E., Chen, Y., Rom, W. N., Codd, W. J., Hanna, B., Alcabes, P., Raben, N., Plotz, P. <strong>Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (Letter)</strong> Am. J. Med. Genet. 79: 69-72, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738873</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738873">Martiniuk et al. (1998)</a> estimated the actual carrier frequency to be about 1 in 100. Mutant gene frequency, q, was calculated to be 0.005. The expected number of individuals born with GSD II was estimated to be 1 in 40,000 births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Three mutations in the GAA gene are common in the Dutch patient population: IVS1-13T-G (<a href="/entry/606800#0006">606800.0006</a>), 525delT (<a href="/entry/606800#0014">606800.0014</a>), and EX18DEL (<a href="/entry/606800#0012">606800.0012</a>). Sixty-three percent of Dutch GSD II patients carry 1 or 2 of these mutations, and the genotype-phenotype correlation is known (<a href="#49" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R. <strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong> J. Med. Genet. 32: 836-837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>] [<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558570">Kroos et al., 1995</a>). To determine the frequency of GSD II, <a href="#7" class="mim-tip-reference" title="Ausems, M. G. E. M., Verbiest, J., Hermans, M. M. P., Kroos, M. A., Beemer, F. A., Wokke, J. H. J., Sandkuijl, L. A., Reuser, A. J. J., van der Ploeg, A. T. <strong>Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.</strong> Europ. J. Hum. Genet. 7: 713-716, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482961</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482961">Ausems et al. (1999)</a> screened an unselected sample of neonates for these 3 mutations. Based on the calculated carrier frequencies so derived, the predicted frequency of the disease was 1 in 40,000, divided into 1 in 138,000 for infantile GSD II and 1 in 57,000 for adult GSD II. This was about 2 to 4 times higher than previously suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8558570+10482961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Acid maltase-deficient Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right themselves from the supine position in the flip test. <a href="#45" class="mim-tip-reference" title="Kikuchi, T., Yang, H. W., Pennybacker, M., Ichihara, N., Mizutani, M., Van Hove, J. L. K., Chen, Y.-T. <strong>Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail.</strong> J. Clin. Invest. 101: 827-833, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9466978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9466978</a>] [<a href="https://doi.org/10.1172/JCI1722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9466978">Kikuchi et al. (1998)</a> injected 6 4-week-old acid maltase-deficient quails, with the clinical symptoms listed, with 14 or 4.2 mg/kg of the precursor form of recombinant human GAA enzyme or buffer alone every 2 to 3 days for 18 days (7 injections). On day 18, both high dose-treated birds (14 mg/kg) scored positive flip tests and flapped their wings, and 1 bird flew up more than 100 cm. GAA activity increased in most of the tissues examined. In heart and liver, glycogen levels dropped to normal and histopathology was normal. In pectoralis muscle, morphology was essentially normal, except for increased glycogen granules. In sharp contrast, sham-treated quail muscle had markedly increased glycogen granules, multivesicular autophagosomes, and inter- and intrafascicular fatty infiltrations. Low dose-treated birds (4.2 mg/kg) improved less biochemically and histopathologically than high dose birds, indicating a dose-dependent response. Additional experiments with intermediate doses and extended treatment halted the progression of the disease. Data were claimed to be the first to show that an exogenous protein can target to muscle and produce muscle improvement. The data also suggested that enzyme replacement with recombinant human GAA is a promising therapy for human Pompe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9466978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mice in whom the Gaa gene was disrupted by gene targeting in embryonic stem cells, <a href="#68" class="mim-tip-reference" title="Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., LaMarca, M., King, C., Ward, J., Sauer, B., Plotz, P. <strong>Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.</strong> J. Biol. Chem. 273: 19086-19092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668092</a>] [<a href="https://doi.org/10.1074/jbc.273.30.19086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668092">Raben et al. (1998)</a> found that homozygosity for the knockout was associated with lack of enzyme activity and accumulation of glycogen in cardiac and skeletal muscle lysosomes by 3 weeks of age, with a progressive increase thereafter. By 3.5 weeks of age, these mice had markedly reduced mobility and strength. They grew normally, however, reached adulthood, remained fertile, and, as in the human adult disease, older mice accumulated glycogen in the diaphragm. By 8 to 9 months of age, the animals developed obvious muscle wasting and a weak, waddling gait. In contrast, in a second model, mutant mice with deletion of exon 6, like the knockout mice with disruption of exon 13 reported by <a href="#17" class="mim-tip-reference" title="Bijvoet, A. G., van de Kamp, E. H., Kroos, M. A., Ding, J. H., Yang, B. Z., Visser, P., Bakker, C. E., Verbeet, M. P., Oostra, B. A., Reuser, A. J. J., van der Ploeg, A. T. <strong>Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.</strong> Hum. Molec. Genet. 7: 53-62, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384603</a>] [<a href="https://doi.org/10.1093/hmg/7.1.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384603">Bijvoet et al., 1998</a>, had unimpaired strength and mobility (up to 6.5 months of age) despite indistinguishable biochemical and pathologic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9384603+9668092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Bijvoet, A. G. A., Van Hirtum, H., Kroos, M. A., Van de Kamp, E. H. M., Schoneveld, O., Visser, P., Brakenhoff, J. P. J., Weggeman, M., van Corven, E. J., Van der Ploeg, A. T., Reuser, A. J. J. <strong>Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.</strong> Hum. Molec. Genet. 8: 2145-2153, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545593</a>] [<a href="https://doi.org/10.1093/hmg/8.12.2145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545593">Bijvoet et al. (1999)</a> produced recombinant human acid alpha-glucosidase on an industrial scale in the milk of transgenic rabbits, and administered the purified enzyme intravenously to knockout mice. Full correction of acid alpha-glucosidase activity was obtained in all tissues except brain after a single dose of 17mg/kg. Weekly enzyme infusions over a period of 6 months resulted in normalization of hepatic glycogen, but only partial degradation of lysosomal glycogen in heart, skeletal and smooth muscle. The tissue morphology improved substantially despite the advanced state of disease at the start of treatment. The authors stated that although neurologic symptoms had not been documented in human GSD II patients, the inability of the enzyme to cross the blood-brain barrier in the mouse model remained a point of concern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Dennis, J. A., Moran, C., Healy, P. J. <strong>The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that caused bovine generalized glycogenosis.</strong> Mammalian Genome 11: 206-212, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10723725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10723725</a>] [<a href="https://doi.org/10.1007/s003350010038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10723725">Dennis et al. (2000)</a> identified mutations in the bovine Gaa gene that led to generalized glycogenosis in Brahman and Shorthorn bovine breeds. All 3 mutations resulted in premature termination of translation. The authors also presented evidence for a missense mutation segregating with the Brahman population, which is responsible for a 70 to 80% reduction in alpha-glucosidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10723725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Gaa-knockout mice and transgenes containing cDNA for the human enzyme under muscle- or liver-specific promoters controlled by tetracycline, <a href="#67" class="mim-tip-reference" title="Raben, N., Lu, N., Nagaraju, K., Rivera, Y., Lee, A., Yan, B., Byrne, B., Meikle, P. J., Umapathysivam, K., Hopwood, J. J., Plotz, P. H. <strong>Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.</strong> Hum. Molec. Genet. 10: 2039-2047, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590121</a>] [<a href="https://doi.org/10.1093/hmg/10.19.2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590121">Raben et al. (2001)</a> demonstrated that the liver provided enzyme far more efficiently. The achievement of therapeutic levels with skeletal muscle transduction required the entire muscle mass to produce high levels of enzyme of which little found its way to the plasma, whereas liver, comprising less than 5% of body weight, secreted 100-fold more enzyme, all of which was in the active 110-kD precursor form. Skeletal and cardiac muscle pathology was completely reversible if the treatment was begun early. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J. <strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong> Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19474295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19474295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19474295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19474295">DeRuisseau et al. (2009)</a> found that Gaa-null mice had increased glycogen levels in cervical spinal cord motor neurons and larger soma size of phrenic neurons. Gaa-null mice had decreased ventilation during quiet breathing and hypercapnic challenge compared to wildtype mice, indicating respiratory insufficiency. Mice with skeletal muscle-specific Gaa expression (MTP) showed normal diaphragm force generation similar to wildtype mice, but decreased ventilation during quiet breathing, similar to Gaa-null mice. The compromised ventilation observed in both mutant mouse models was associated with decreased phrenic nerve motor output. Spinal cord samples from a patient with Pompe disease showed increased neuronal glycogen. <a href="#26" class="mim-tip-reference" title="DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J. <strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong> Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19474295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19474295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19474295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19474295">DeRuisseau et al. (2009)</a> suggested that respiratory impairment in individuals with Pompe disease results from a combination of muscular and neural deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19474295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E. <strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong> Hum. Molec. Genet. 19: 684-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19959526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19959526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19959526[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19959526">Douillard-Guilloux et al. (2010)</a> analyzed the effect of a complete genetic elimination of glycogen synthesis in a murine GSDII model. Gaa/Gys1 (<a href="/entry/138570">138570</a>) double-knockout mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly. In addition, the abnormalities in glucose metabolism and insulin tolerance observed in the GSDII model were corrected in Gaa/Gys1 double-knockout mice. Muscle atrophy observed in 11-month-old GSDII mice was less pronounced in Gaa/Gys1 double-knockout mice, resulting in improved exercise capacity. <a href="#27" class="mim-tip-reference" title="Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E. <strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong> Hum. Molec. Genet. 19: 684-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19959526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19959526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19959526[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19959526">Douillard-Guilloux et al. (2010)</a> concluded that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in the GSDII mouse model and offers a novel perspective for the treatment of Pompe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19959526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Becker1998" class="mim-tip-reference" title="Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H. <strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong> Am. J. Hum. Genet. 62: 991-994, 1998.">Becker et al. (1998)</a>; <a href="#Besancon1985" class="mim-tip-reference" title="Besancon, A.-M., Castelnau, L., Nicolesco, H., Dumez, Y., Poenaru, L. <strong>Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.</strong> Clin. Genet. 27: 479-482, 1985.">Besancon et al. (1985)</a>; <a href="#Boerkoel1995" class="mim-tip-reference" title="Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N. <strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong> Am. J. Hum. Genet. 56: 887-897, 1995.">Boerkoel et al. (1995)</a>; <a href="#Bulkley1978" class="mim-tip-reference" title="Bulkley, B. H., Hutchins, G. M. <strong>Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome.</strong> Am. Heart J. 96: 246-252, 1978.">Bulkley and Hutchins (1978)</a>; <a href="#Dreyfus1978" class="mim-tip-reference" title="Dreyfus, J.-C., Poenaru, L. <strong>Alpha glucosidases in white blood cells, with reference to the detection of acid alpha 1-4 glucosidase deficiency.</strong> Biochem. Biophys. Res. Commun. 85: 615-622, 1978.">Dreyfus and Poenaru (1978)</a>; <a href="#Hers1963" class="mim-tip-reference" title="Hers, H. G. <strong>Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease).</strong> Biochem. J. 86: 11-16, 1963.">Hers (1963)</a>; <a href="#Hirschhorn1969" class="mim-tip-reference" title="Hirschhorn, K., Nadler, H. L., Waithe, W. I., Brown, B. I., Hirschhorn, R. <strong>Pompe's disease: detection of heterozygotes by lymphocyte stimulation.</strong> Science 166: 1632-1633, 1969.">Hirschhorn et al. (1969)</a>; <a href="#Karpati1977" class="mim-tip-reference" title="Karpati, G., Carpenter, S., Eisen, A., Aube, M., DiMauro, S. <strong>The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.</strong> Ann. Neurol. 1: 276-280, 1977.">Karpati et al. (1977)</a>; <a href="#Kroos1997" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J. <strong>Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.</strong> Hum. Mutat. 9: 17-22, 1997.">Kroos et al. (1997)</a>; <a href="#Loonen1981" class="mim-tip-reference" title="Loonen, M. C. B., Schram, A. W., Koster, J. F., Niermeijer, M. F., Busch, H. F. M., Martin, J. J., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M. <strong>Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).</strong> Clin. Genet. 19: 55-63, 1981.">Loonen et al. (1981)</a>; <a href="#Mehler1977" class="mim-tip-reference" title="Mehler, M., DiMauro, S. <strong>Residual acid maltase activity in late-onset acid maltase deficiency.</strong> Neurology 27: 178-184, 1977.">Mehler and DiMauro (1977)</a>; <a href="#Pongratz1976" class="mim-tip-reference" title="Pongratz, D., Schlossmacher, I., Koppenwallner, C., Hubner, G. <strong>An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.</strong> Path. Europ. 11: 39-44, 1976.">Pongratz et al.
|
|
(1976)</a>; <a href="#Rosenow1978" class="mim-tip-reference" title="Rosenow, E. C., Engel, A. G. <strong>Acid maltase deficiency in adults presenting as respiratory failure.</strong> Am. J. Med. 64: 485-491, 1978.">Rosenow and Engel (1978)</a>; <a href="#Salafsky1973" class="mim-tip-reference" title="Salafsky, I. S., Nadler, H. L. <strong>Deficiency of acid alpha glucosidase in the urine of patients with Pompe disease.</strong> J. Pediat. 82: 294-298, 1973.">Salafsky and Nadler (1973)</a>; <a href="#Shanske1981" class="mim-tip-reference" title="Shanske, S., DiMauro, S. <strong>Late-onset acid maltase deficiency: biochemical studies of leukocytes.</strong> J. Neurol. Sci. 50: 57-62, 1981.">Shanske
|
|
and DiMauro (1981)</a>; <a href="#Taniguchi1978" class="mim-tip-reference" title="Taniguchi, N., Kato, E., Yoshida, H., Iwaki, S., Ohki, T., Koizumi, S. <strong>Alpha-glucosidase activity in human leukocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.</strong> Clin. Chim. Acta 89: 293-299, 1978.">Taniguchi et al. (1978)</a>; <a href="#Walvoort1985" class="mim-tip-reference" title="Walvoort, H. C., Dormans, J. A. M. A., van den Ingh, T. S. G. A. M. <strong>Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).</strong> J. Inherit. Metab. Dis. 8: 38-46, 1985.">Walvoort et al. (1985)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Amalfitano2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Amalfitano, A., Bengur, A. R., Morse, R. P., Majure, J. M., Case, L. E., Veerling, D. L., Mackey, J., Kishnani, P., Smith, W., McVie-Wylie, A., Sullivan, J. A., Hoganson, G. E., Phillips, J. A., III, Schaefer, G. B., Charrow, J., Ware, R. E., Bossen, E. H., Chen, Y.-T.
|
|
<strong>Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.</strong>
|
|
Genet. Med. 3: 132-138, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Amartino2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Amartino, H., Painceira, D., Pomponio, R. J., Niizawa, G., Sabio Paz, V., Blanco, M., Chamoles, N.
|
|
<strong>Two clinical forms of glycogen-storage disease type II in two generations of the same family. (Letter)</strong>
|
|
Clin. Genet. 69: 187-188, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16433701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16433701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16433701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2005.00557.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Angelini1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Angelini, C., Engel, A. G., Titus, J. L.
|
|
<strong>Adult acid maltase deficiency: abnormalities in fibroblasts cultured from patients.</strong>
|
|
New Eng. J. Med. 287: 948-951, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4507329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4507329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4507329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197211092871902" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Anneser2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H.
|
|
<strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong>
|
|
Neurology 64: 368-370, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.WNL.0000149528.95362.20" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Askanas1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Askanas, V., Engel, W. K., DiMauro, S., Brooks, B. R., Mehler, M.
|
|
<strong>Adult-onset acid maltase deficiency: morphologic and biochemical abnormalities reproduced in cultured muscle.</strong>
|
|
New Eng. J. Med. 294: 573-578, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1060914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1060914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1060914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197603112941102" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Ausems1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ausems, M. G. E. M., Lochman, P., van Diggelen, O. P., Ploos van Amstel, H. K., Reuser, A. J. J., Wokke, J. H. A.
|
|
<strong>A diagnostic protocol for adult-onset glycogen storage disease type II.</strong>
|
|
Neurology 52: 851-853, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10078739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.52.4.851" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Ausems1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ausems, M. G. E. M., Verbiest, J., Hermans, M. M. P., Kroos, M. A., Beemer, F. A., Wokke, J. H. J., Sandkuijl, L. A., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.</strong>
|
|
Europ. J. Hum. Genet. 7: 713-716, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200367" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Banugaria2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Banugaria, S. G., Prater, S. N., Ng, Y.-K., Kobori, J. A., Finkel, R. S., Ladda, R. L., Chen, Y.-T., Rosenberg, A. S., Kishnani, P. S.
|
|
<strong>The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.</strong>
|
|
Genet. Med. 13: 729-736, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21637107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21637107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21637107[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21637107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/GIM.0b013e3182174703" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Bashan1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bashan, N., Potashnik, R., Barash, V., Gutman, A., Moses, S. W.
|
|
<strong>Glycogen storage disease type II in Israel.</strong>
|
|
Isr. J. Med. Sci. 24: 224-227, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3132435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3132435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3132435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Becker1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H.
|
|
<strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong>
|
|
Am. J. Hum. Genet. 62: 991-994, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301788" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Bembi2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A.
|
|
<strong>Diagnosis of glycogenosis type II.</strong>
|
|
Neurology 71: S4-S11, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19047572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19047572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19047572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0b013e31818da91e" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Bembi2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A.
|
|
<strong>Management and treatment of glycogenosis type II.</strong>
|
|
Neurology 71: S12-S36, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19047571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19047571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19047571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0b013e31818da93f" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Beratis1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
|
|
<strong>Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.</strong>
|
|
J. Clin. Invest. 62: 1264-1274, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI109247" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Beratis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
|
|
<strong>Genetic heterogeneity in acid alpha-glucosidase deficiency.</strong>
|
|
Am. J. Hum. Genet. 35: 21-33, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6401921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Besancon1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Besancon, A.-M., Castelnau, L., Nicolesco, H., Dumez, Y., Poenaru, L.
|
|
<strong>Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.</strong>
|
|
Clin. Genet. 27: 479-482, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3891160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3891160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3891160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00235.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Bijvoet1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bijvoet, A. G. A., Van Hirtum, H., Kroos, M. A., Van de Kamp, E. H. M., Schoneveld, O., Visser, P., Brakenhoff, J. P. J., Weggeman, M., van Corven, E. J., Van der Ploeg, A. T., Reuser, A. J. J.
|
|
<strong>Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.</strong>
|
|
Hum. Molec. Genet. 8: 2145-2153, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/8.12.2145" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Bijvoet1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bijvoet, A. G., van de Kamp, E. H., Kroos, M. A., Ding, J. H., Yang, B. Z., Visser, P., Bakker, C. E., Verbeet, M. P., Oostra, B. A., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.</strong>
|
|
Hum. Molec. Genet. 7: 53-62, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/7.1.53" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Boerkoel1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N.
|
|
<strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong>
|
|
Am. J. Hum. Genet. 56: 887-897, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Bulkley1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bulkley, B. H., Hutchins, G. M.
|
|
<strong>Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome.</strong>
|
|
Am. Heart J. 96: 246-252, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/277063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">277063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=277063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-8703(78)90093-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Byrne1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A.
|
|
<strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong>
|
|
Brain 109: 523-536, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Chancellor1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chancellor, A. M., Warlow, C. P., Webb, J. N., Lucas, M. G., Besley, G. T. N., Broadhead, D. M.
|
|
<strong>Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. (Letter)</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 54: 659-660, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1895140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1895140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1895140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.54.7.659" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Danon1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Danon, M. J., DiMauro, S., Shanske, S., Archer, F. L., Miranda, A. F.
|
|
<strong>Juvenile-onset acid maltase deficiency with unusual familial features.</strong>
|
|
Neurology 36: 818-822, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3084996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3084996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3084996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.36.6.818" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Davis1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davis, J., Goldman, M., Loh, L., Casson, M.
|
|
<strong>Diaphragm function and alveolar hypoventilation.</strong>
|
|
Quart. J. Med. 45: 87-100, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1062815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1062815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1062815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="de Filippi2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Filippi, P., Ravaglia, S., Bembi, B., Costa, A., Moglia, A., Piccolo, G., Repetto, A., Dardis, A., Greco, G., Ciana, G., Canevari, F., Danesino, C.
|
|
<strong>The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.</strong>
|
|
Genet. Med. 12: 206-211, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20308911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20308911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20308911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/GIM.0b013e3181d2900e" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Dennis2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dennis, J. A., Moran, C., Healy, P. J.
|
|
<strong>The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that caused bovine generalized glycogenosis.</strong>
|
|
Mammalian Genome 11: 206-212, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10723725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10723725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10723725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s003350010038" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="DeRuisseau2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J.
|
|
<strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19474295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19474295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19474295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19474295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Douillard-Guilloux2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E.
|
|
<strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong>
|
|
Hum. Molec. Genet. 19: 684-696, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19959526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19959526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19959526[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19959526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddp535" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Dreyfus1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dreyfus, J.-C., Poenaru, L.
|
|
<strong>Alpha glucosidases in white blood cells, with reference to the detection of acid alpha 1-4 glucosidase deficiency.</strong>
|
|
Biochem. Biophys. Res. Commun. 85: 615-622, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/367369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">367369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=367369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(78)91207-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Engel1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engel, A. G.
|
|
<strong>Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.</strong>
|
|
Brain 93: 599-616, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4918728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4918728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4918728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/93.3.599" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Forsha2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Forsha, D., Li, J. S., Smith, P. B., van der Ploeg, A. T., Kishnani, P., Pasquali, S. K.
|
|
<strong>Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.</strong>
|
|
Genet. Med. 13: 625-631, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21543987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21543987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21543987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/GIM.0b013e3182142966" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Francesconi1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Francesconi, M., Auff, E.
|
|
<strong>Cardiac arrhythmias and the adult form of type II glycogenosis. (Letter)</strong>
|
|
New Eng. J. Med. 306: 937-938, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6950223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6950223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6950223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198204153061515" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Groen2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Groen, W. B., Leen, W. G., Vos, A. M. C., Cruysberg, J. R. M., van Doorn, P. A., van Engelen, B. G. M.
|
|
<strong>Ptosis as a feature of late-onset glycogenosis type II.</strong>
|
|
Neurology 67: 2261-2262, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17190962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000249183.39952.3e" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Hagemans2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hagemans, M. L. C., Winkel, L. P. F., Hop, W. C. J., Reuser, A. J. J., Van Doorn, P. A., Van der Ploeg, A. T.
|
|
<strong>Disease severity in children and adults with Pompe disease related to age and disease duration.</strong>
|
|
Neurology 64: 2139-2141, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.WNL.0000165979.46537.56" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Herbert2019" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S.
|
|
<strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong>
|
|
Molec. Genet. Metab. 126: 106-116, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Hers1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hers, H. G.
|
|
<strong>Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease).</strong>
|
|
Biochem. J. 86: 11-16, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13954110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13954110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13954110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1042/bj0860011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Hirschhorn1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hirschhorn, K., Nadler, H. L., Waithe, W. I., Brown, B. I., Hirschhorn, R.
|
|
<strong>Pompe's disease: detection of heterozygotes by lymphocyte stimulation.</strong>
|
|
Science 166: 1632-1633, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5360584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5360584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5360584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.166.3913.1632" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Hoefsloot1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hoefsloot, L. H., van der Ploeg, A. T., Kroos, M. A., Hoogeveen-Westerveld, M., Oostra, B. A., Reuser, A. J. J.
|
|
<strong>Adult and infantile glycogenosis type II in one family, explained by allelic diversity.</strong>
|
|
Am. J. Hum. Genet. 46: 45-52, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2403755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2403755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2403755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Hudgson1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hudgson, P., Gardner-Medwin, D., Worsfold, M., Pennington, R. J. T., Walton, J. N.
|
|
<strong>Adult myopathy from glycogen storage disease due to acid maltase deficiency.</strong>
|
|
Brain 91: 435-462, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5247277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5247277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5247277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/91.3.435" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Huggins2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huggins, E., Holland, M., Case, L. E., Blount, J., Landstrom, A. P., Jones, H. N., Kishnani, P. S.
|
|
<strong>Early clinical phenotype of late onset Pompe disease: lessons learned from newborn screening.</strong>
|
|
Molec. Genet. Metab. 135: 179-185, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35123877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35123877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35123877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2022.01.003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Iancu1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Iancu, T. C., Lerner, A., Shiloh, H., Bashan, N., Moses, S.
|
|
<strong>Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.</strong>
|
|
Europ. J. Pediat. 147: 372-376, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3135192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00496413" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Isaacs1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Isaacs, H., Savage, N., Badenhorst, M., Whistler, T.
|
|
<strong>Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 49: 1011-1018, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3093639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3093639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3093639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.49.9.1011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Jones2021" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jones, H. N., Hobson-Webb, L. D., Kuchibhatia, M., Crisp, K. D., Whyte-Rayson, A., Batten, M. T., Zwelling, P. J., Kishnani, P. S.
|
|
<strong>Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.</strong>
|
|
Molec. Genet. Metab. 133: 261-268, 2021.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34053870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34053870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34053870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2021.05.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Kallwass2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kallwass, H., Carr, C., Gerrein, J., Titlow, M., Pomponio, R., Bali, D., Dai, J., Kishnani, P., Skrinar, A., Corzo, D., Keutzer, J.
|
|
<strong>Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.</strong>
|
|
Molec. Genet. Metab. 90: 449-452, 2007. Note: Erratum: Molec. Genet. Metab. 92: 285 only, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17270480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17270480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17270480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2006.12.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Karpati1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karpati, G., Carpenter, S., Eisen, A., Aube, M., DiMauro, S.
|
|
<strong>The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.</strong>
|
|
Ann. Neurol. 1: 276-280, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/889315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">889315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=889315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410010314" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Kikuchi1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kikuchi, T., Yang, H. W., Pennybacker, M., Ichihara, N., Mizutani, M., Van Hove, J. L. K., Chen, Y.-T.
|
|
<strong>Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail.</strong>
|
|
J. Clin. Invest. 101: 827-833, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9466978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9466978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9466978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI1722" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Korlimarla2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Korlimarla, A., Spiridigliozzi, G. A., Crisp, K., Herbert, M., Chen, S., Malinzak, M., Stefanescu, M., Austin, S. L., Cope, H., Zimmerman, K., Jones, H., Provenzale, J. M., Kishnani, P. S.
|
|
<strong>Novel approaches to quantify CNS involvement in children with Pompe disease.</strong>
|
|
Neurology 95: e718-e732, 2020. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32518148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32518148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32518148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0000000000009979" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Koster1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koster, J. F., Busch, H. F. M., Slee, R. G., van Weerden, T. W.
|
|
<strong>Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.</strong>
|
|
Clin. Chim. Acta 87: 451-453, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28188</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0009-8981(78)90191-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Kretzschmar1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kretzschmar, H. A., Wagner, H., Hubner, G., Danek, A., Witt, T. N., Mehraein, P.
|
|
<strong>Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.</strong>
|
|
J. Neurol. Sci. 98: 169-183, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(90)90258-o" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Kroos1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R.
|
|
<strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong>
|
|
J. Med. Genet. 32: 836-837, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Kroos1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J.
|
|
<strong>Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.</strong>
|
|
Hum. Mutat. 9: 17-22, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Laforet2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laforet, P., Nicolino, M., Eymard, B., Puech, J. P., Caillaud, C., Poenaru, L., Fardeau, M.
|
|
<strong>Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.</strong>
|
|
Neurology 55: 1122-1128, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11071489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11071489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11071489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.55.8.1122" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Lam2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lam, C. W., Yuen, Y. P., Chan, K. Y., Tong, S. F., Lai, C. K., Chow, T. C., Lee, K. C., Chan, Y. W., Martiniuk, F.
|
|
<strong>Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.</strong>
|
|
Neurology 60: 715-717, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12601120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000048661.95327.bf" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Loonen1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loonen, M. C. B., Busch, H. F. M., Koster, J. F., Martin, J. J., Niermeijer, M. F., Schram, A. W., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M.
|
|
<strong>A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.</strong>
|
|
Neurology 31: 1209-1216, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6810200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6810200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6810200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.31.10.1209" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Loonen1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loonen, M. C. B., Schram, A. W., Koster, J. F., Niermeijer, M. F., Busch, H. F. M., Martin, J. J., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M.
|
|
<strong>Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).</strong>
|
|
Clin. Genet. 19: 55-63, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7006871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7006871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7006871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00668.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Makos1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makos, M. M., McComb, R. D., Hart, M. N., Bennett, D. R.
|
|
<strong>Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship.</strong>
|
|
Ann. Neurol. 22: 629-633, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3322184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410220512" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Margolis1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Margolis, M. L., Hill, A. R.
|
|
<strong>Acid maltase deficiency in an adult: evidence for improvement in respiratory function with high-protein dietary therapy.</strong>
|
|
Am. Rev. Resp. Dis. 134: 328-331, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3090917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1164/arrd.1986.134.2.328" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Martiniuk1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R.
|
|
<strong>Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.</strong>
|
|
Am. J. Hum. Genet. 47: 440-445, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2203258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2203258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2203258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Martiniuk1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martiniuk, F., Chen, A., Mack, A., Arvanitopoulos, E., Chen, Y., Rom, W. N., Codd, W. J., Hanna, B., Alcabes, P., Raben, N., Plotz, P.
|
|
<strong>Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (Letter)</strong>
|
|
Am. J. Med. Genet. 79: 69-72, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Matsuishi1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsuishi, T., Yoshino, M., Terasawa, K., Nonaka, I.
|
|
<strong>Childhood acid maltase deficiency: a clinical, biochemical, and morphologic study of three patients.</strong>
|
|
Arch. Neurol. 41: 47-52, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6360103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6360103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6360103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1984.04050130053022" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Mehler1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mehler, M., DiMauro, S.
|
|
<strong>Residual acid maltase activity in late-onset acid maltase deficiency.</strong>
|
|
Neurology 27: 178-184, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/264606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">264606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=264606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.27.2.178" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Molho1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Molho, M., Katz, I., Schwartz, E., Shemesh, Y., Sadeh, M., Wolf, E.
|
|
<strong>Familial bilateral paralysis of diaphragm: adult onset.</strong>
|
|
Chest 91: 466-467, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3816327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3816327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3816327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1378/chest.91.3.466" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Montalvo2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M. G.
|
|
<strong>Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.</strong>
|
|
Hum. Mutat. 27: 999-1006, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16917947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16917947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16917947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.20374" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Nishimoto1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nishimoto, J., Inui, K., Okada, S., Ishigami, W., Hirota, S., Yamano, T., Yabuuchi, H.
|
|
<strong>A family with pseudodeficiency of acid alpha-glucosidase.</strong>
|
|
Clin. Genet. 33: 254-261, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3282727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3282727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3282727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03446.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Pompe1932" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pompe, J. C.
|
|
<strong>Over idiopathische hypertrophie van het hart.</strong>
|
|
Ned. Tijdschr. Geneeskd. 76: 304-312, 1932.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Pongratz1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pongratz, D., Schlossmacher, I., Koppenwallner, C., Hubner, G.
|
|
<strong>An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.</strong>
|
|
Path. Europ. 11: 39-44, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/132627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">132627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=132627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Prater2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., Jones, H. N., Phornphutkul, C., Wang, R. Y., Young, S. P., Kishnani, P. S.
|
|
<strong>The emerging phenotype of long-term survivors with infantile Pompe disease.</strong>
|
|
Genet. Med. 14: 800-810, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22538254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22538254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22538254[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22538254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/gim.2012.44" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Raben2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raben, N., Lu, N., Nagaraju, K., Rivera, Y., Lee, A., Yan, B., Byrne, B., Meikle, P. J., Umapathysivam, K., Hopwood, J. J., Plotz, P. H.
|
|
<strong>Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.</strong>
|
|
Hum. Molec. Genet. 10: 2039-2047, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/10.19.2039" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Raben1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., LaMarca, M., King, C., Ward, J., Sauer, B., Plotz, P.
|
|
<strong>Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.</strong>
|
|
J. Biol. Chem. 273: 19086-19092, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9668092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.273.30.19086" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Reuser1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reuser, A. J. J., Koster, J. F., Hoogeveen, A., Galjaard, H.
|
|
<strong>Biochemical, immunological and cell genetic studies in glycogenosis type II.</strong>
|
|
Am. J. Hum. Genet. 30: 132-143, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=350041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Reuser1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reuser, A. J. J., Kroos, M., Willemsen, R., Swallow, D., Tager, J. M., Galjaard, H.
|
|
<strong>Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.</strong>
|
|
J. Clin. Invest. 79: 1689-1699, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3108320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3108320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3108320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Rosenow1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosenow, E. C., Engel, A. G.
|
|
<strong>Acid maltase deficiency in adults presenting as respiratory failure.</strong>
|
|
Am. J. Med. 64: 485-491, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/345804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">345804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=345804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(78)90235-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Salafsky1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Salafsky, I. S., Nadler, H. L.
|
|
<strong>Deficiency of acid alpha glucosidase in the urine of patients with Pompe disease.</strong>
|
|
J. Pediat. 82: 294-298, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4265199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4265199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4265199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(73)80174-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Shanske1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shanske, S., DiMauro, S.
|
|
<strong>Late-onset acid maltase deficiency: biochemical studies of leukocytes.</strong>
|
|
J. Neurol. Sci. 50: 57-62, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7014786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7014786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7014786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(81)90041-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Sivak1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sivak, E. D., Salanga, V. D., Wilbourn, A. J., Mitsumoto, H., Golish, J.
|
|
<strong>Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis.</strong>
|
|
Ann. Neurol. 9: 613-615, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6789760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6789760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6789760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410090618" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Slonim2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Slonim, A. E., Bulone, L., Ritz, S., Goldberg, T., Chen, A., Martiniuk, F.
|
|
<strong>Identification of two subtypes of infantile acid maltase deficiency.</strong>
|
|
J. Pediat. 137: 283-285, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1067/mpd.2000.107112" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Slonim1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Slonim, A. E., Coleman, R. A., McElligot, M. A., Najjar, J., Hirschhorn, K., Labadie, G. U., Mrak, R., Evans, O. B., Shipp, E., Presson, R.
|
|
<strong>Improvement of muscle function in acid maltase deficiency by high-protein therapy.</strong>
|
|
Neurology 33: 34-38, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6401355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6401355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6401355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.33.1.34" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Smith1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, H. L., Amick, L. D., Sidbury, J. B., Jr.
|
|
<strong>Type II glycogenosis.</strong>
|
|
Am. J. Dis. Child. 3: 475-481, 1966.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Smith1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, J., Zellweger, H., Afifi, A. K.
|
|
<strong>Muscular form of glycogenosis, type II (Pompe).</strong>
|
|
Neurology 17: 537-549, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5229488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5229488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5229488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.17.6.537" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Smith2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, W. E., Sullivan-Saarela, J. A., Li, J. S., Cox, G. F., Corzo, D., Chen, Y.-T., Kishnani, P. S.
|
|
<strong>Sibling phenotype concordance in classical infantile Pompe disease.</strong>
|
|
Am. J. Med. Genet. 143A: 2493-2501, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17853454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.31936" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Suzuki1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suzuki, Y., Tsuji, A., Omura, K., Nakamura, G., Awa, S., Kroos, M., Reuser, A. J. J.
|
|
<strong>Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.</strong>
|
|
Clin. Genet. 33: 376-385, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3288378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3288378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3288378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03465.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Swaiman1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Swaiman, K. F., Kennedy, W. R., Sauls, H. S.
|
|
<strong>Late infantile acid maltase deficiency.</strong>
|
|
Arch. Neurol. 18: 642-648, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5240358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5240358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5240358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1968.00470360064006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Tan2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tan, Q. K.-G., Stockton, D. W., Pivnick, E., Choudhri, A. F., Hines-Dowell, S., Pena, L. D. M., Deimling, M. A., Freemark, M. S., Kishnani, P. S.
|
|
<strong>Premature pubarche in children with Pompe disease.</strong>
|
|
J. Pediat. 166: 1075-1078, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25687635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25687635</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25687635[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25687635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jpeds.2014.12.074" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="83" class="mim-anchor"></a>
|
|
<a id="Taniguchi1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taniguchi, N., Kato, E., Yoshida, H., Iwaki, S., Ohki, T., Koizumi, S.
|
|
<strong>Alpha-glucosidase activity in human leukocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.</strong>
|
|
Clin. Chim. Acta 89: 293-299, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/361294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">361294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=361294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0009-8981(78)90328-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="84" class="mim-anchor"></a>
|
|
<a id="Trend1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trend, P. St. J., Wiles, C. M., Spencer, G. T., Morgan-Hughes, J. A., Lake, B. D., Patrick, A. D.
|
|
<strong>Acid maltase deficiency in adults: diagnosis and management in five cases.</strong>
|
|
Brain 108: 845-860, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3865697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3865697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3865697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/108.4.845" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="85" class="mim-anchor"></a>
|
|
<a id="van den Hout2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van den Hout, H. M. P., Hop, W., van Diggelen, O. P., Smeitink, J. A. M., Smit, G. P. A., Poll-The, B.-T. T., Bakker, H. D., Loonen, M. C. B., de Klerk, J. B. C., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.</strong>
|
|
Pediatrics 112: 332-340, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1542/peds.112.2.332" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="86" class="mim-anchor"></a>
|
|
<a id="Walvoort1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Walvoort, H. C., Dormans, J. A. M. A., van den Ingh, T. S. G. A. M.
|
|
<strong>Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).</strong>
|
|
J. Inherit. Metab. Dis. 8: 38-46, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3921759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3921759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3921759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01805484" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="87" class="mim-anchor"></a>
|
|
<a id="Wang2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R.
|
|
<strong>Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.</strong>
|
|
Genet. Med. 13: 457-484, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21502868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21502868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21502868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/GIM.0b013e318211a7e1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="88" class="mim-anchor"></a>
|
|
<a id="Wokke1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wokke, J. H. J., Ausems, M. G. E. M., van den Boogaard, M.-J. H., Ippel, E. F., van Diggelen, O., Kroos, M. A., Boer, M., Jennekens, F. G. I., Reuser, A. J. J., Ploos van Amstel, H. K.
|
|
<strong>Genotype-phenotype correlation in adult-onset acid maltase deficiency.</strong>
|
|
Ann. Neurol. 38: 450-454, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410380316" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="89" class="mim-anchor"></a>
|
|
<a id="Zellweger1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zellweger, H., Brown, B. I., McCormick, W. F., Jun-Bi, T.
|
|
<strong>A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency.</strong>
|
|
Ann. Paediat. 205: 413-437, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5217754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5217754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5217754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Sonja A. Rasmussen - updated : 07/19/2022
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 04/07/2022<br>Hilary J. Vernon - updated : 07/15/2021<br>Hilary J. Vernon - updated : 07/07/2021<br>Hilary J. Vernon - updated : 10/14/2020<br>Ada Hamosh - updated : 10/3/2012<br>Ada Hamosh - updated : 9/28/2012<br>Ada Hamosh - updated : 9/28/2012<br>George E. Tiller - updated : 2/8/2011<br>Ada Hamosh - updated : 7/30/2010<br>Cassandra L. Kniffin - updated : 11/25/2009<br>Cassandra L. Kniffin - updated : 3/12/2009<br>Cassandra L. Kniffin - updated : 3/4/2009<br>Cassandra L. Kniffin - updated : 12/5/2007<br>Ada Hamosh - updated : 6/14/2007<br>Cassandra L. Kniffin - updated : 10/4/2006<br>Cassandra L. Kniffin - updated : 5/30/2006<br>Marla J. F. O'Neill - updated : 3/20/2006<br>Cassandra L. Kniffin - updated : 11/2/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Natalie E. Krasikov - updated : 3/12/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Patricia A. Hartz - updated : 3/25/2002<br>George E. Tiller - updated : 2/6/2002<br>Victor A. McKusick - updated : 9/19/2001<br>Ada Hamosh - updated : 8/29/2001<br>Victor A. McKusick - updated : 3/24/2000<br>George E. Tiller - updated : 3/23/2000<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 5/14/1999<br>Orest Hurko - updated : 4/2/1999<br>Victor A. McKusick - updated : 9/16/1998<br>Victor A. McKusick - updated : 8/18/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 4/29/1998<br>Victor A. McKusick - updated : 3/25/1998<br>Victor A. McKusick - updated : 2/21/1997<br>Iosif W. Lurie - updated : 10/1/1996<br>Moyra Smith - updated : 3/15/1996<br>Orest Hurko - updated : 2/5/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/3/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 07/03/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 11/10/2022<br>carol : 07/20/2022<br>carol : 07/19/2022<br>carol : 04/08/2022<br>carol : 04/07/2022<br>carol : 07/15/2021<br>carol : 07/12/2021<br>carol : 07/08/2021<br>carol : 07/07/2021<br>carol : 10/14/2020<br>carol : 10/12/2020<br>carol : 05/08/2014<br>terry : 4/4/2013<br>alopez : 10/3/2012<br>alopez : 10/1/2012<br>terry : 9/28/2012<br>terry : 9/28/2012<br>carol : 10/27/2011<br>wwang : 3/14/2011<br>terry : 2/8/2011<br>terry : 10/12/2010<br>alopez : 7/30/2010<br>terry : 7/30/2010<br>alopez : 12/21/2009<br>wwang : 12/10/2009<br>ckniffin : 11/25/2009<br>wwang : 9/1/2009<br>wwang : 3/18/2009<br>ckniffin : 3/12/2009<br>wwang : 3/10/2009<br>ckniffin : 3/4/2009<br>wwang : 1/8/2008<br>ckniffin : 12/5/2007<br>alopez : 6/22/2007<br>terry : 6/14/2007<br>carol : 4/17/2007<br>wwang : 10/20/2006<br>ckniffin : 10/4/2006<br>wwang : 6/12/2006<br>ckniffin : 5/30/2006<br>alopez : 4/12/2006<br>wwang : 3/21/2006<br>terry : 3/20/2006<br>wwang : 11/11/2005<br>ckniffin : 11/2/2005<br>ckniffin : 7/26/2005<br>carol : 6/14/2005<br>ckniffin : 6/9/2005<br>carol : 3/23/2004<br>terry : 3/12/2004<br>carol : 2/19/2004<br>terry : 2/19/2004<br>tkritzer : 9/8/2003<br>ckniffin : 8/27/2003<br>ckniffin : 4/11/2002<br>carol : 4/10/2002<br>ckniffin : 4/10/2002<br>carol : 3/25/2002<br>terry : 3/25/2002<br>cwells : 2/18/2002<br>cwells : 2/6/2002<br>mcapotos : 12/19/2001<br>alopez : 9/19/2001<br>alopez : 9/19/2001<br>cwells : 9/14/2001<br>cwells : 8/30/2001<br>terry : 8/29/2001<br>alopez : 5/1/2001<br>mcapotos : 4/18/2000<br>mcapotos : 4/18/2000<br>mcapotos : 4/17/2000<br>terry : 3/24/2000<br>alopez : 3/23/2000<br>alopez : 11/12/1999<br>terry : 11/8/1999<br>mgross : 9/9/1999<br>mgross : 6/3/1999<br>mgross : 5/28/1999<br>terry : 5/14/1999<br>carol : 4/2/1999<br>alopez : 9/16/1998<br>terry : 9/16/1998<br>dkim : 9/10/1998<br>carol : 8/18/1998<br>terry : 8/18/1998<br>carol : 6/3/1998<br>alopez : 5/20/1998<br>terry : 5/13/1998<br>carol : 5/11/1998<br>carol : 5/8/1998<br>terry : 4/29/1998<br>alopez : 3/25/1998<br>terry : 3/20/1998<br>dholmes : 9/30/1997<br>jenny : 8/22/1997<br>jenny : 8/20/1997<br>mark : 7/3/1997<br>jenny : 2/24/1997<br>jenny : 2/21/1997<br>terry : 2/5/1997<br>terry : 1/23/1997<br>terry : 1/21/1997<br>carol : 10/1/1996<br>mark : 7/5/1996<br>terry : 5/13/1996<br>terry : 4/15/1996<br>mark : 3/15/1996<br>mark : 3/4/1996<br>terry : 2/21/1996<br>mark : 2/5/1996<br>terry : 1/31/1996<br>mark : 6/11/1995<br>pfoster : 11/30/1994<br>davew : 6/2/1994<br>terry : 5/16/1994<br>carol : 5/11/1994<br>mimadm : 4/18/1994
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 232300
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
POMPE DISEASE
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLYCOGEN STORAGE DISEASE II; GSD2<br />
|
|
GSD II<br />
|
|
ACID ALPHA-GLUCOSIDASE DEFICIENCY<br />
|
|
GAA DEFICIENCY<br />
|
|
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM<br />
|
|
CARDIOMEGALIA GLYCOGENICA DIFFUSA<br />
|
|
ACID MALTASE DEFICIENCY; AMD<br />
|
|
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 274864009;
|
|
|
|
|
|
<strong>ICD10CM:</strong> E74.02;
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 308552, 365, 420429;
|
|
|
|
|
|
<strong>DO:</strong> 2752;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
17q25.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease II
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
232300
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GAA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606800
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Pompe disease, also known as glycogen storage disease II (GSD2), is caused by homozygous or compound heterozygous mutation in the GAA gene (606800), which encodes acid alpha-1,4-glucosidase, also known as acid maltase, on chromosome 17q25.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Pompe disease, also known as glycogen storage disease II (GSD2), is the prototypic lysosomal storage disease. In the classic infantile form, cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture (Matsuishi et al., 1984). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Infantile Onset</em></strong></p><p>
|
|
In classic cases of Pompe disease, affected children are prostrate and markedly hypotonic with large hearts. The tongue may be enlarged. Although the enzyme is deficient in all tissues, muscle weakness and heart involvement are the most common features. The liver is rarely enlarged, except as a result of heart failure, and hypoglycemia and acidosis do not occur as they do in glycogen storage disease I (232200). Death usually occurs in the first year of life in the classic form of the disorder and cardiac involvement is striking. Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.</p><p>Slonim et al. (2000) proposed a second, milder subtype of the infantile form. They reported 12 infants who showed less severe cardiomyopathy, absence of left ventricular outflow obstruction, and traces (less than 5%) of residual acid maltase activity; 9 of the 12 had longer survival with assisted ventilation and intubation. </p><p>Smith et al. (1967) reported a boy with a myotonic form of disease and survival to the age of almost 11 years. The heart was not significantly involved. Alpha-1,4-glucosidase was absent from liver and muscle. There were heavy glycogen deposits and an anomalous polysaccharide with short outer chains was identified. Smith et al. (1966) reported a similar case in a boy who survived to the age of 4.5 years. Zellweger et al. (1965) described brothers, aged 15 and 4.5 years, with minimal manifestations limited to skeletal muscle. A deficiency of muscle alpha-1,4-glucosidase was demonstrated. Muscle showed abnormal accumulations of glycogen. A maternal uncle may have also been affected. </p><p>On analysis of questionnaire data from 255 children and adults with Pompe disease, Hagemans et al. (2005) found that disease severity, including wheelchair use and use of respiratory support, increased with disease duration, but was not related to the age of the patients. However, there was a subset of patients under age 15 years with a more severe disease, requiring increased use of ventilatory support, wheelchair support, and nutritional support. All within this patient subgroup had onset of symptoms within the first 2 years of life. </p><p>Forsha et al. (2011) studied the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease. Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. ECGs and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Eighty-seven patients were included. Median age was 44 years, and half were men. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in the mild range). There was no change in cardiovascular status associated with enzyme replacement therapy. No significant safety concerns were identified. Although some patients with late-onset Pompe disease had abnormalities on ECG or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. </p><p>Banugaria et al. (2011) retrospectively analyzed 34 infants with Pompe disease; 11 were cross-reactive immunologic material (CRIM)-negative patients; 9 were high-titer CRIM-positive patients; and 14 were low-titer CRIM-positive patients. Clinical outcome measures included survival, ventilator-free survival, left ventricular mass index, the Alberta Infant Motor Scale score, and urine Glc4 levels. Clinical outcomes in the high-titer CRIM-positive group were poor across all areas evaluated relative to the low-titer CRIM-positive group. For the CRIM-negative and high-titer CRIM-positive groups, no statistically significant differences were observed for any outcome measures, and both patient groups did poorly. Banugaria et al. (2011) concluded that, irrespective of CRIM material status, patients with infantile Pompe disease and high sustained antibody titer have an attenuated therapeutic response to enzyme replacement therapy. Banugaria et al. (2011) concluded that with the advent of immunomodulation therapies, identification of patients at risk for developing high sustained antibody titer is critical. </p><p>Prater et al. (2012) described the phenotype of long-term survivors with infantile Pompe disease. Inclusion criteria included ventilator-free status and age less than 6 months at treatment initiation, as well as survival to age greater than 5 years. Eleven of 17 patients met these study criteria; all were CRIM-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and 4 required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. Prater et al. (2012) concluded that long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings. </p><p>Korlimarla et al. (2020) examined CNS involvement in 12 children with infantile-onset Pompe disease (IPD) and 2 children with late-onset Pompe disease (LOPD) who were receiving enzyme replacement therapy. They quantified brain white matter hyperintense foci by using the Fazekas scale (FS) grading system to score MRI findings in 10 brain areas. The FS scores were then compared to measurements of cognition and language. In 10 of the 12 children with IPD, with a median age of 10.6 years, mild to severe white matter hyperintense foci were seen. The lesions were seen throughout the corticospinal tracts of the brain. Two children with IPD had no white matter hyperintense foci. There were no significant relationships between total FS scores and age of the patient, anatomic areas of the brain, duration of treatment, duration of disease, or the patients' GAA mutations. No white matter hyperintense foci were seen in the 2 children with LOPD. Ten children with IPD and 2 children with LOPD completed cognitive assessments. Full-scale Wechsler IQ scores in patients with IPD ranged from significantly below average in 3 children to significantly above average in 1 child. These scores were average or above average in the 2 patients with LOPD. CELF-5 scores in patients with IPD on core language, language index, and expressive language index ranged from below average to above average. All language scores were above average in 1 LOPD patient and average and below average in the other LOPD patient. There were no significant relationships between FS scores and standard scores on each cognitive or language domain. Korlimarla et al. (2020) concluded that characterizing baseline and serial white matter hyperintense lesions in patients with Pompe disease is important for the longitudinal follow-up of disease. </p><p>Herbert et al. (2019) reported 4 patients who had onset of clinical features of Pompe disease between 20 days and 20 months of age and were compound heterozygous for the common GAA intron 1 mutation (IVS1-13T-G; 606800.0006), thought to lead to mild, adult-onset disease, and a different second GAA mutation. All 4 patients had delayed motor development and characteristic posture and movement abnormalities; 2 patients had feeding difficulty, and 2 patients had sleep apnea. None of the patients had cardiac involvement. Despite enzyme replacement therapy, all of the patients had residual muscle weakness. </p><p>Among a cohort of 41 children with infantile-onset Pompe disease (IPD) on enzyme replacement therapy, Tan et al. (2015) identified 8 who developed precocious pubarche (19.5%), including 4 males and 4 females. Of these, 5 had classic IPD and 3 had atypical IPD. The age at onset of pubarche ranged from 14 months to 4 years 2 months for those with classic IPD; the 3 patients with atypical IPD had a later age of onset at age 7 years. The etiology of precocious pubarche in IPD was unclear. The authors noted that monitoring for sexual development and function is needed for children and adolescents with IPD because premature pubarche can be associated with development of glucose intolerance, insulin resistance, and/or ovarian hyperandrogenism. </p><p><strong><em>Adult Onset</em></strong></p><p>
|
|
Hudgson et al. (1968) reported the case of a Portuguese girl who died at age 19 and that of a living 44-year-old housewife. Other experiences suggesting the existence of more than one type of glycogenosis II were reported by Swaiman et al. (1968). </p><p>Adult-onset acid maltase deficiency may simulate limb-girdle dystrophy and the only clinical clue may be early involvement of the diaphragm (Engel, 1970; Davis et al., 1976; Sivak et al., 1981). Trend et al. (1985) reported 4 of 5 patients who presented with acute respiratory insufficiency or chronic nocturnal ventilatory insufficiency. They reported that long-term domiciliary ventilatory support using a rocking bed or intermittent positive pressure respirations with a tracheostomy permitted patients to return to work. Molho et al. (1987) reported the cases of monozygotic twin brothers who at age 50 developed bilateral paralysis of the diaphragm. Severe dyspnea in the supine position necessitated mechanical ventilation by pneumobelts during the night. The possibility of adult acid maltase deficiency should be considered in these cases. </p><p>Francesconi and Auff (1982) described Wolff-Parkinson-White syndrome (194200) and second-degree atrioventricular block in a patient with the adult form of glycogenosis II. Byrne et al. (1986) stated that 'cardiac involvement has only been reported in 1 patient with noninfantile acid maltase deficiency.' </p><p>Makos et al. (1987) described 3 brothers with alpha-glucosidase deficiency, each of whom developed a fusiform basilar artery aneurysm as young adults, which was complicated by fatal rupture in 2 of them and by a cerebellar infarction in the third. Postmortem examination demonstrated severe vacuolization of skeletal muscle, liver, and vascular smooth muscle with accumulation of glycogen. In the surviving brother, similar glycogen deposition was demonstrated in the smooth muscle of the superficial temporal artery. Glycogen deposition in vascular smooth muscle had been demonstrated previously in this disorder but had not been considered clinically significant. One of the brothers had onset of weakness at age 19, demonstration at age 27 of basilar artery aneurysm by cerebral angiography, which was performed because of throbbing, occipital headaches, and, at age 32, cerebellar infarction. He had 2 sons who were normal. The patients in this family had normal alpha-glucosidase activity in leukocytes but barely detectable alpha-glucosidase in muscle homogenates at acid pH. Kretzschmar et al. (1990) described a 40-year-old male with adult acid maltase deficiency who, in addition to involvement of the liver and skeletal muscles, had extensive involvement of large and small cerebral arteries with aneurysm formation. </p><p>Chancellor et al. (1991) described the case of a 68-year-old man who first developed difficulty walking at the age of 65 and for several months had experienced urinary incontinence with exercise. Chancellor et al. (1991) pointed out that many patients with detrusor instability remain asymptomatic, probably because they augment urethral closure pressure by increasing striatal muscle activity in the sphincter mechanism. They postulated that the inability to withstand increases in detrusor pressure only occurred because of striated pelvic floor muscle fatigue associated with exercise. Alternatively, there may have been a neurogenic component in the muscle weakness because of involvement of spinal motor neurons. </p><p>Laforet et al. (2000) reported the clinical features of 21 unrelated patients with juvenile- or adult-onset GAA deficiency. The mean age at onset of obvious muscle complaints was 36 years, although most patients (16 of 21) reported mild muscular symptoms since childhood, including scapular winging, scoliosis, and difficulty running. Most patients had predominant involvement of pelvic girdle muscles without significant distal leg involvement. Eight (40%) patients had severe respiratory muscle involvement, which was not correlated with the severity of limb muscle weakness. Biochemical studies showed residual GAA activity in leukocytes ranging from 0 to 17% of normal values; there was no correlation between leukocyte GAA activity and clinical severity. Genetic analysis identified the common intron 1 mutation in the GAA gene (IVS1-13T-G; 606800.0006) in 17 patients (16 compound heterozygotes and 1 homozygote). There were no genotype/phenotype correlations. </p><p>Anneser et al. (2005) reported a 30-year-old woman with alpha-glucosidase deficiency confirmed by mutation in the GAA gene (606800.0016; 606800.0017). She presented with a 4-year history of progressive proximal muscle weakness, and examination showed marked vacuolar myopathy, marked reduction in GAA enzyme activity, increased serum creatine kinase, and increased transaminase levels. After diagnosis, she experienced 3 stroke-like episodes within 3 months. Brain CT showed dilatative angiopathy of the intracerebral vessels, especially of the basilar artery, with calcifications of the carotid and medial cerebral arteries. MRI showed several white matter lesions. She had no other additional risk factors for atherosclerosis. Anneser et al. (2005) suggested that similar extramuscular vascular changes may be the most relevant prognostic factor for adult patients with slowly progressive Pompe disease. </p><p>Groen et al. (2006) found that 4 (33%) of 12 patients with adult-onset GSD II had ptosis, which was the presenting feature in 3 patients. Six (50%) of the 12 had measurable evidence of decreased levator palpebral muscle function. The prevalence of ptosis was significantly higher in patients compared to the general population, suggesting that it may be considered a clinical feature of adult-onset GSD II. </p><p>Jones et al. (2021) assessed the tongue phenotype of 70 individuals with LOPD, including 10 individuals who had never received treatment, compared to 30 individuals with other forms of myopathy and 30 individuals with neuropathy. Patients with LOPD had reduced maximal lingual strength compared to individuals with other myopathies and individuals with neuropathy. Patients with LOPD also had reduced tongue muscle thickness as measured by ultrasound compared to individuals with other myopathies and individuals with neuropathy, suggesting fibrofatty replacement and muscle atrophy in LOPD. </p><p>Huggins et al. (2022) reported clinical features in 20 patients, aged 6 to 21 months, who were diagnosed with LOPD. All 20 patients were initially detected due to abnormal newborn screening and found to have mutations in the GAA gene. Four patients were homozygous for the c.-32-13T-G (606800.0006) mutation and 14 were heterozygous for the c.-32-13T-G mutation and a second mutation. None of the patients had cardiomyopathy or cardiac rhythm abnormalities. Laboratory abnormalities included increased CK, AST, and ALT in 8 patients and increased urine Glc4 in 2 patients. Nine patients, including the 4 patients who were homozygous for the c.-32-13T-G mutation, had normal CK, AST, and ALT. All of the patients had abnormal postural and kinematic findings, and the most common abnormalities included lack of appropriate use of hip extensors, increased hip external rotation while sitting, and tight iliotibial bands. Nine patients had mild feeding and swallowing impairment, but signs of dysphagia and aspiration were mild. Huggins et al. (2022) concluded that there is a great amount of clinical variability among patients with LOPD and that patients should be closely monitored for progression of symptoms. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Koster et al. (1978) and Loonen et al. (1981) described a grandfather with acid maltase deficiency leading to difficulty climbing stairs after age 52, and a granddaughter with typical Pompe disease leading to death at 16 weeks. The muscle of both subjects showed residual activity. It seems likely that the grandfather was a genetic compound. In this same family, Hoefsloot et al. (1990) showed that 3 sibs were homozygous for an allele that caused complete deficiency of acid alpha-glucosidase; these patients had a severe infantile form of the disease. The eldest patient in the family, with very mild clinical symptoms, was shown to be a compound heterozygote for this allele and for a second allele characterized by a reduced net production of catalytically active acid alpha-glucosidase, resulting in partial enzyme deficiency. The mutant alleles were segregated in human-mouse somatic cell hybrids to investigate their individual function. </p><p>Danon et al. (1986) also reported instances of the probable genetic compound state. Nishimoto et al. (1988) described a family in which the proband, aged 15, had the juvenile muscular dystrophy form of glycogenosis type II, whereas both parents and 2 sisters had pseudodeficiency of acid alpha-glucosidase. It was almost impossible to distinguish the homozygote from the heterozygous members by lymphocyte assays alone. Both parents may have been compound heterozygotes for the pseudodeficiency allele and the allele for the juvenile form. </p><p>Allelic heterogeneity was demonstrated further by the patient reported by Suzuki et al. (1988): a male developed cardiomyopathy at 12 years of age and died of heart failure at age 15 years without any sign of skeletal muscle involvement, either clinically or histologically. A Km mutant of acid alpha-glucosidase was demonstrated. Iancu et al. (1988) described an affected 12-year-old boy who presented with a right lumbar mass which appeared to represent local pseudohypertrophy. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The defect in type II glycogen storage disease involves acid alpha-1,4-glucosidase (acid maltase), a lysosomal enzyme. Whereas the glycogen is distributed rather uniformly in the cytoplasm in the other glycogen storage diseases (e.g., GSD I; 232200), it is enclosed in lysosomal membranes in this form.</p><p>In a case of infantile acid alpha-glucosidase deficiency, Beratis et al. (1978) concluded that the defect was a structural mutation causing synthesis of a catalytically inactive, cross-reacting material (CRM)-positive, enzyme protein. On the other hand, the mutation in the adult form causes a reduction in the amount of enzyme protein. Of 9 fibroblast lines from patients with the infantile form of acid alpha-glucosidase deficiency, Beratis et al. (1983) found that 8 were CRM-negative and 1 was CRM-positive. No difference in apparent enzyme activity was detected between the 2 forms. In 2 fibroblast strains from the adult form, rocket immunoelectrophoresis showed a reduction in the amount of enzyme protein that was directly proportional to the reduction in enzyme activity. In another 'adult' fibroblast line, enzyme activity was in the same range as in the infantile form and no CRM was identified. Fibroblasts with phenotype 2 of acid alpha-glucosidase, considered a normal variant, showed reduction both in the amount of enzyme protein and in the ability to cleave glycogen; catalytic activity for maltose was normal, however. </p><p>Reuser et al. (1978) studied fibroblasts from the infantile, juvenile, and adult forms of acid alpha-glucosidase deficiency. An inverse correlation was found between the severity of clinical manifestations and the level of residual enzyme activity in fibroblasts. The kinetic and electrophoretic properties of residual enzyme in fibroblasts from adult patients were identical to those from controls. The mutation may, therefore, affect the production or degradation of enzyme rather than its catalytic function. Complementation studies by fusion of fibroblasts from different types yielded no sign of nonallelism of the several forms. </p><p>Reuser et al. (1987) investigated the nature of the acid alpha-glucosidase deficiency in cultured fibroblasts from 30 patients. Deficiency of catalytically active mature enzyme in lysosomes was common to all clinical phenotypes but, in most cases, was more profound in early-onset than in late-onset forms of the disease. The role of secondary factors cannot be excluded, however, because 3 adult patients were found with very low activity and little enzyme in the lysosomes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Angelini et al. (1972) showed that the adult form of the disease can be diagnosed in cultured skin fibroblasts. Askanas et al. (1976) established muscle tissue cultures from a 34-year-old patient with the adult-onset myopathy. Morphologically and biochemically, the newly grown fibers of cultured muscle showed the same changes as did biopsied muscle. </p><p>Ausems et al. (1999) found that creatine kinase (CK) elevation is a sensitive marker of GSD II. CK levels were elevated in all 18 patients in their cohort and in 94.3% of GSD II patients reported in the literature. They proposed a diagnostic protocol for adult-onset GSD II. In patients presenting with a slowly progressive proximal muscle weakness or with respiratory insufficiency, they recommended measurement of serum levels of CK, followed by measurement of acid alpha-glucosidase activity in leukocytes, using glycogen as a substrate. To rule out the pseudodeficiency state seen in carriers of the GAA2 allele, they recommended that patients with depressed leukocyte activity have a repeat assay in cultured fibroblasts using artificial substrate. </p><p>Kallwass et al. (2007) reported a simple and reliable method to measure alpha-glucosidase activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to eliminate isoenzyme interference. The authors demonstrated that this method efficiently detected late-onset Pompe patients who were frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types. </p><p>Bembi et al. (2008) provided a detailed guide to the diagnosis of GSD II, with emphasis on the importance of early recognition of clinical manifestations. Diagnosis is confirmed by biochemical assays showing absent or decreased GAA enzyme and enzyme activity in peripheral blood cells, skin fibroblasts, or muscle biopsy. Affected adults usually present with skeletal muscle weakness and cramps and may often have respiratory failure. Progression is usually slow. Muscle imaging may be useful to assess the extent of involvement in older patients. Affected infants can present with hypertrophic cardiomyopathy in the first months of life and show rapid progression, often leading to death within the first 2 years. Patients with juvenile onset have a more attenuated course compared to infantile onset, and do not have cardiomyopathy. Other features include generalized hypotonia and hepatomegaly. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Slonim et al. (1983) and Margolis and Hill (1986) concluded that a high-protein diet is effective therapy in adults with acid maltase deficiency. Striking improvement in respiratory function was observed. The effect was serendipitously discovered when a high-protein diet for weight reduction was given. Correction of obesity was not thought to be the exclusive or even the major mechanism of the respiratory improvement. Isaacs et al. (1986) observed benefit from a high-protein, low-carbohydrate diet in a patient with adult acid maltase deficiency. </p><p>Amalfitano et al. (2001) reported the results of a phase I/II open-label single-dose study of recombinant human alpha-glucosidase infused intravenously twice weekly in 3 infants with infantile GSD II. The results of more than 250 infusions showed that recombinant human GAA was generally well tolerated. Steady decreases in heart size and maintenance of normal cardiac function for more than 1 year were observed in all 3 infants. These infants lived well past the critical age of 1 year (16, 18, and 22 months old at the time of this study) and continued to have normal cardiac function. Improvements of skeletal muscle functions were also noted; 1 patient showed marked improvement and had normal muscle tone and strength as well as normal neurologic and developmental evaluations. </p><p>Van den Hout et al. (2003) studied the natural course of infantile Pompe disease in 20 Dutch patients and reviewed the findings in 133 published cases. They concluded that survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies. </p><p>Bembi et al. (2008) provided a detailed review of the clinical management of GSD II and emphasized a multidisciplinary approach. Enzyme replacement therapy with alglucosidase-alpha has been shown to be effective, particularly in infants. </p><p>Wang et al. (2011) described the ACMG standards and guidelines for the diagnostic confirmation and management of presymptomatic individuals with lysosomal storage diseases. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Glycogen storage disease type II is inherited as an autosomal recessive trait.</p><p>Smith et al. (2007) studied sib phenotype discordance in classic infantile Pompe disease by reviewing the medical literature for affected sibships in which at least 1 sib had clinical or biochemical findings consistent with infantile Pompe disease, including symptoms beginning in infancy, early hypotonia, cardiomegaly by 6 months of age, and early death. Since 1931, the literature has documented 13 families with 31 affected infants (11 probands; 20 affected sibs). The median age at symptom onset for all affected infants was 3 months (range, 0-6 months) with a significant correlation between probands and affected sibs (R = 0.60, p = 0.04). The median age at death for all affected infants was 6 months (range, 1.5-13 months); probands were slightly older at death than their sibs. The median length of disease course for all affected infants was 3 months (range, 0-10 months) and was slightly longer for probands. There was phenotypic concordance, particularly with respect to cardiomyopathy. Smith et al. (2007) concluded that there is minimal phenotypic and life span variation among sibs with infantile Pompe disease, which is important for genetic counseling. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Multiple mutations in the acid maltase gene have been shown to cause glycogen storage disease II. Martiniuk et al. (1990) demonstrated a single basepair substitution of G to A at position 271 (606800.0001). Wokke et al. (1995) found a single mutation in intron 1 of the acid maltase (606800.0006) in 16 patients with adult-onset acid maltase deficiency. </p><p>Lam et al. (2003) reported compound heterozygosity for mutations in the GAA gene in a 16-year-old Chinese boy with juvenile-onset GSD II. The patient had mild symptoms in early childhood, but his condition worsened at age 12 years, with severe weakness, sleep-disordered breathing, and respiratory difficulties. His asymptomatic 13-year-old brother, who had the same mutations, had only biochemical abnormalities suggestive of disease (elevated CK, lack of GAA activity in leukocytes). The authors commented on the intrafamilial variability. </p><p>Amartino et al. (2006) reported severe infantile and asymptomatic adult forms of GSD II in 2 generations of the same family. The proband was a 2-month-old male infant of nonconsanguineous Argentinian parents who was admitted to the hospital at 5 days with cyanosis and found to have cardiomegaly, an elevated CK level, high-voltage QRS complexes on ECG, and a thick interventricular septum and hypertrophic ventricular walls on echocardiogram. Pompe disease was suspected and confirmed by measuring GAA activity in leukocytes, and Amartino et al. (2006) identified homozygosity for mutations in the GAA gene, inherited from the parents, respectively. The asymptomatic father was found to have a second mutation on his other allele, the common adult-onset IVS1 splice site mutation (IVS1-13T-G; 606800.0006). Subsequent evaluation revealed a normal physical examination with no neuromuscular complaints and normal ECG and echocardiogram, but he had elevated CK, short duration potentials on electromyography, and reductions in maximal expiratory and inspiratory pressures on spirometry. </p><p>Among 40 Italian patients with late-onset GSD II, Montalvo et al. (2006) identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was the IVS1-13T-G mutation, present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). </p><p>In a cohort of 84 patients with GSD II who had the common GAA IVS1-13T-G mutation, Herbert et al. (2019) identified 4 patients with different second mutations in GAA who had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). Herbert et al. (2019) concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. </p><p><strong><em>Modifier Genes</em></strong></p><p>
|
|
De Filippi et al. (2010) studied 38 patients with late-onset Pompe disease, aged 44.6 +/- 19.8 years, and compared the distribution of angiotensin I-converting enzyme (ACE) polymorphism (106180.0001) according to demographic and disease parameters. The distribution of ACE polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The 3 groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P = 0.041), higher creatine kinase levels at diagnosis (P = 0.024), presence of muscle pain (P = 0.014), and more severe rate of disease progression (P = 0.037, analysis of variance test for interaction). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In Israel, almost all cases of Pompe disease have occurred in Palestinian Arabs (Bashan et al., 1988). </p><p>On the basis of Hardy-Weinberg equilibrium and the fact that 7 mutations they tested represented only 29% of the total, Martiniuk et al. (1998) estimated the actual carrier frequency to be about 1 in 100. Mutant gene frequency, q, was calculated to be 0.005. The expected number of individuals born with GSD II was estimated to be 1 in 40,000 births. </p><p>Three mutations in the GAA gene are common in the Dutch patient population: IVS1-13T-G (606800.0006), 525delT (606800.0014), and EX18DEL (606800.0012). Sixty-three percent of Dutch GSD II patients carry 1 or 2 of these mutations, and the genotype-phenotype correlation is known (Kroos et al., 1995). To determine the frequency of GSD II, Ausems et al. (1999) screened an unselected sample of neonates for these 3 mutations. Based on the calculated carrier frequencies so derived, the predicted frequency of the disease was 1 in 40,000, divided into 1 in 138,000 for infantile GSD II and 1 in 57,000 for adult GSD II. This was about 2 to 4 times higher than previously suggested. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Acid maltase-deficient Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right themselves from the supine position in the flip test. Kikuchi et al. (1998) injected 6 4-week-old acid maltase-deficient quails, with the clinical symptoms listed, with 14 or 4.2 mg/kg of the precursor form of recombinant human GAA enzyme or buffer alone every 2 to 3 days for 18 days (7 injections). On day 18, both high dose-treated birds (14 mg/kg) scored positive flip tests and flapped their wings, and 1 bird flew up more than 100 cm. GAA activity increased in most of the tissues examined. In heart and liver, glycogen levels dropped to normal and histopathology was normal. In pectoralis muscle, morphology was essentially normal, except for increased glycogen granules. In sharp contrast, sham-treated quail muscle had markedly increased glycogen granules, multivesicular autophagosomes, and inter- and intrafascicular fatty infiltrations. Low dose-treated birds (4.2 mg/kg) improved less biochemically and histopathologically than high dose birds, indicating a dose-dependent response. Additional experiments with intermediate doses and extended treatment halted the progression of the disease. Data were claimed to be the first to show that an exogenous protein can target to muscle and produce muscle improvement. The data also suggested that enzyme replacement with recombinant human GAA is a promising therapy for human Pompe disease. </p><p>In mice in whom the Gaa gene was disrupted by gene targeting in embryonic stem cells, Raben et al. (1998) found that homozygosity for the knockout was associated with lack of enzyme activity and accumulation of glycogen in cardiac and skeletal muscle lysosomes by 3 weeks of age, with a progressive increase thereafter. By 3.5 weeks of age, these mice had markedly reduced mobility and strength. They grew normally, however, reached adulthood, remained fertile, and, as in the human adult disease, older mice accumulated glycogen in the diaphragm. By 8 to 9 months of age, the animals developed obvious muscle wasting and a weak, waddling gait. In contrast, in a second model, mutant mice with deletion of exon 6, like the knockout mice with disruption of exon 13 reported by Bijvoet et al., 1998, had unimpaired strength and mobility (up to 6.5 months of age) despite indistinguishable biochemical and pathologic changes. </p><p>Bijvoet et al. (1999) produced recombinant human acid alpha-glucosidase on an industrial scale in the milk of transgenic rabbits, and administered the purified enzyme intravenously to knockout mice. Full correction of acid alpha-glucosidase activity was obtained in all tissues except brain after a single dose of 17mg/kg. Weekly enzyme infusions over a period of 6 months resulted in normalization of hepatic glycogen, but only partial degradation of lysosomal glycogen in heart, skeletal and smooth muscle. The tissue morphology improved substantially despite the advanced state of disease at the start of treatment. The authors stated that although neurologic symptoms had not been documented in human GSD II patients, the inability of the enzyme to cross the blood-brain barrier in the mouse model remained a point of concern. </p><p>Dennis et al. (2000) identified mutations in the bovine Gaa gene that led to generalized glycogenosis in Brahman and Shorthorn bovine breeds. All 3 mutations resulted in premature termination of translation. The authors also presented evidence for a missense mutation segregating with the Brahman population, which is responsible for a 70 to 80% reduction in alpha-glucosidase activity. </p><p>Using Gaa-knockout mice and transgenes containing cDNA for the human enzyme under muscle- or liver-specific promoters controlled by tetracycline, Raben et al. (2001) demonstrated that the liver provided enzyme far more efficiently. The achievement of therapeutic levels with skeletal muscle transduction required the entire muscle mass to produce high levels of enzyme of which little found its way to the plasma, whereas liver, comprising less than 5% of body weight, secreted 100-fold more enzyme, all of which was in the active 110-kD precursor form. Skeletal and cardiac muscle pathology was completely reversible if the treatment was begun early. </p><p>DeRuisseau et al. (2009) found that Gaa-null mice had increased glycogen levels in cervical spinal cord motor neurons and larger soma size of phrenic neurons. Gaa-null mice had decreased ventilation during quiet breathing and hypercapnic challenge compared to wildtype mice, indicating respiratory insufficiency. Mice with skeletal muscle-specific Gaa expression (MTP) showed normal diaphragm force generation similar to wildtype mice, but decreased ventilation during quiet breathing, similar to Gaa-null mice. The compromised ventilation observed in both mutant mouse models was associated with decreased phrenic nerve motor output. Spinal cord samples from a patient with Pompe disease showed increased neuronal glycogen. DeRuisseau et al. (2009) suggested that respiratory impairment in individuals with Pompe disease results from a combination of muscular and neural deficits. </p><p>Douillard-Guilloux et al. (2010) analyzed the effect of a complete genetic elimination of glycogen synthesis in a murine GSDII model. Gaa/Gys1 (138570) double-knockout mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly. In addition, the abnormalities in glucose metabolism and insulin tolerance observed in the GSDII model were corrected in Gaa/Gys1 double-knockout mice. Muscle atrophy observed in 11-month-old GSDII mice was less pronounced in Gaa/Gys1 double-knockout mice, resulting in improved exercise capacity. Douillard-Guilloux et al. (2010) concluded that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in the GSDII mouse model and offers a novel perspective for the treatment of Pompe disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Becker et al. (1998); Besancon et al. (1985); Boerkoel et al. (1995);
|
|
Bulkley and Hutchins (1978); Dreyfus and Poenaru (1978); Hers (1963);
|
|
Hirschhorn et al. (1969); Karpati et al. (1977); Kroos et al. (1997);
|
|
Loonen et al. (1981); Mehler and DiMauro (1977); Pongratz et al.
|
|
(1976); Rosenow and Engel (1978); Salafsky and Nadler (1973); Shanske
|
|
and DiMauro (1981); Taniguchi et al. (1978); Walvoort et al. (1985)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Amalfitano, A., Bengur, A. R., Morse, R. P., Majure, J. M., Case, L. E., Veerling, D. L., Mackey, J., Kishnani, P., Smith, W., McVie-Wylie, A., Sullivan, J. A., Hoganson, G. E., Phillips, J. A., III, Schaefer, G. B., Charrow, J., Ware, R. E., Bossen, E. H., Chen, Y.-T.
|
|
<strong>Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.</strong>
|
|
Genet. Med. 3: 132-138, 2001.
|
|
|
|
|
|
[PubMed: 11286229]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Amartino, H., Painceira, D., Pomponio, R. J., Niizawa, G., Sabio Paz, V., Blanco, M., Chamoles, N.
|
|
<strong>Two clinical forms of glycogen-storage disease type II in two generations of the same family. (Letter)</strong>
|
|
Clin. Genet. 69: 187-188, 2006.
|
|
|
|
|
|
[PubMed: 16433701]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2005.00557.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Angelini, C., Engel, A. G., Titus, J. L.
|
|
<strong>Adult acid maltase deficiency: abnormalities in fibroblasts cultured from patients.</strong>
|
|
New Eng. J. Med. 287: 948-951, 1972.
|
|
|
|
|
|
[PubMed: 4507329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197211092871902]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H.
|
|
<strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong>
|
|
Neurology 64: 368-370, 2005.
|
|
|
|
|
|
[PubMed: 15668445]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.WNL.0000149528.95362.20]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Askanas, V., Engel, W. K., DiMauro, S., Brooks, B. R., Mehler, M.
|
|
<strong>Adult-onset acid maltase deficiency: morphologic and biochemical abnormalities reproduced in cultured muscle.</strong>
|
|
New Eng. J. Med. 294: 573-578, 1976.
|
|
|
|
|
|
[PubMed: 1060914]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197603112941102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ausems, M. G. E. M., Lochman, P., van Diggelen, O. P., Ploos van Amstel, H. K., Reuser, A. J. J., Wokke, J. H. A.
|
|
<strong>A diagnostic protocol for adult-onset glycogen storage disease type II.</strong>
|
|
Neurology 52: 851-853, 1999.
|
|
|
|
|
|
[PubMed: 10078739]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.52.4.851]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ausems, M. G. E. M., Verbiest, J., Hermans, M. M. P., Kroos, M. A., Beemer, F. A., Wokke, J. H. J., Sandkuijl, L. A., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.</strong>
|
|
Europ. J. Hum. Genet. 7: 713-716, 1999.
|
|
|
|
|
|
[PubMed: 10482961]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200367]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Banugaria, S. G., Prater, S. N., Ng, Y.-K., Kobori, J. A., Finkel, R. S., Ladda, R. L., Chen, Y.-T., Rosenberg, A. S., Kishnani, P. S.
|
|
<strong>The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.</strong>
|
|
Genet. Med. 13: 729-736, 2011.
|
|
|
|
|
|
[PubMed: 21637107]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e3182174703]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bashan, N., Potashnik, R., Barash, V., Gutman, A., Moses, S. W.
|
|
<strong>Glycogen storage disease type II in Israel.</strong>
|
|
Isr. J. Med. Sci. 24: 224-227, 1988.
|
|
|
|
|
|
[PubMed: 3132435]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H.
|
|
<strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong>
|
|
Am. J. Hum. Genet. 62: 991-994, 1998.
|
|
|
|
|
|
[PubMed: 9529346]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301788]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A.
|
|
<strong>Diagnosis of glycogenosis type II.</strong>
|
|
Neurology 71: S4-S11, 2008.
|
|
|
|
|
|
[PubMed: 19047572]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e31818da91e]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bembi, B., Cerini, E., Danesino, C., Donati, M. A., Gasperini, S., Morandi, L., Musumeci, O., Parenti, G., Ravaglia, S., Seidita, F., Toscano, A., Vianello, A.
|
|
<strong>Management and treatment of glycogenosis type II.</strong>
|
|
Neurology 71: S12-S36, 2008.
|
|
|
|
|
|
[PubMed: 19047571]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e31818da93f]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
|
|
<strong>Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.</strong>
|
|
J. Clin. Invest. 62: 1264-1274, 1978.
|
|
|
|
|
|
[PubMed: 34626]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109247]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
|
|
<strong>Genetic heterogeneity in acid alpha-glucosidase deficiency.</strong>
|
|
Am. J. Hum. Genet. 35: 21-33, 1983.
|
|
|
|
|
|
[PubMed: 6401921]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Besancon, A.-M., Castelnau, L., Nicolesco, H., Dumez, Y., Poenaru, L.
|
|
<strong>Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.</strong>
|
|
Clin. Genet. 27: 479-482, 1985.
|
|
|
|
|
|
[PubMed: 3891160]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00235.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bijvoet, A. G. A., Van Hirtum, H., Kroos, M. A., Van de Kamp, E. H. M., Schoneveld, O., Visser, P., Brakenhoff, J. P. J., Weggeman, M., van Corven, E. J., Van der Ploeg, A. T., Reuser, A. J. J.
|
|
<strong>Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.</strong>
|
|
Hum. Molec. Genet. 8: 2145-2153, 1999.
|
|
|
|
|
|
[PubMed: 10545593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/8.12.2145]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bijvoet, A. G., van de Kamp, E. H., Kroos, M. A., Ding, J. H., Yang, B. Z., Visser, P., Bakker, C. E., Verbeet, M. P., Oostra, B. A., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.</strong>
|
|
Hum. Molec. Genet. 7: 53-62, 1998.
|
|
|
|
|
|
[PubMed: 9384603]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.1.53]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N.
|
|
<strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong>
|
|
Am. J. Hum. Genet. 56: 887-897, 1995.
|
|
|
|
|
|
[PubMed: 7717400]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bulkley, B. H., Hutchins, G. M.
|
|
<strong>Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome.</strong>
|
|
Am. Heart J. 96: 246-252, 1978.
|
|
|
|
|
|
[PubMed: 277063]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-8703(78)90093-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A.
|
|
<strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong>
|
|
Brain 109: 523-536, 1986.
|
|
|
|
|
|
[PubMed: 3087571]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/109.3.523]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chancellor, A. M., Warlow, C. P., Webb, J. N., Lucas, M. G., Besley, G. T. N., Broadhead, D. M.
|
|
<strong>Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. (Letter)</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 54: 659-660, 1991.
|
|
|
|
|
|
[PubMed: 1895140]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.54.7.659]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Danon, M. J., DiMauro, S., Shanske, S., Archer, F. L., Miranda, A. F.
|
|
<strong>Juvenile-onset acid maltase deficiency with unusual familial features.</strong>
|
|
Neurology 36: 818-822, 1986.
|
|
|
|
|
|
[PubMed: 3084996]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.36.6.818]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davis, J., Goldman, M., Loh, L., Casson, M.
|
|
<strong>Diaphragm function and alveolar hypoventilation.</strong>
|
|
Quart. J. Med. 45: 87-100, 1976.
|
|
|
|
|
|
[PubMed: 1062815]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Filippi, P., Ravaglia, S., Bembi, B., Costa, A., Moglia, A., Piccolo, G., Repetto, A., Dardis, A., Greco, G., Ciana, G., Canevari, F., Danesino, C.
|
|
<strong>The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.</strong>
|
|
Genet. Med. 12: 206-211, 2010.
|
|
|
|
|
|
[PubMed: 20308911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e3181d2900e]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dennis, J. A., Moran, C., Healy, P. J.
|
|
<strong>The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that caused bovine generalized glycogenosis.</strong>
|
|
Mammalian Genome 11: 206-212, 2000.
|
|
|
|
|
|
[PubMed: 10723725]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s003350010038]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J.
|
|
<strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.
|
|
|
|
|
|
[PubMed: 19474295]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0902534106]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E.
|
|
<strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong>
|
|
Hum. Molec. Genet. 19: 684-696, 2010.
|
|
|
|
|
|
[PubMed: 19959526]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp535]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dreyfus, J.-C., Poenaru, L.
|
|
<strong>Alpha glucosidases in white blood cells, with reference to the detection of acid alpha 1-4 glucosidase deficiency.</strong>
|
|
Biochem. Biophys. Res. Commun. 85: 615-622, 1978.
|
|
|
|
|
|
[PubMed: 367369]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(78)91207-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engel, A. G.
|
|
<strong>Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.</strong>
|
|
Brain 93: 599-616, 1970.
|
|
|
|
|
|
[PubMed: 4918728]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/93.3.599]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Forsha, D., Li, J. S., Smith, P. B., van der Ploeg, A. T., Kishnani, P., Pasquali, S. K.
|
|
<strong>Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.</strong>
|
|
Genet. Med. 13: 625-631, 2011.
|
|
|
|
|
|
[PubMed: 21543987]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e3182142966]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Francesconi, M., Auff, E.
|
|
<strong>Cardiac arrhythmias and the adult form of type II glycogenosis. (Letter)</strong>
|
|
New Eng. J. Med. 306: 937-938, 1982.
|
|
|
|
|
|
[PubMed: 6950223]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198204153061515]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Groen, W. B., Leen, W. G., Vos, A. M. C., Cruysberg, J. R. M., van Doorn, P. A., van Engelen, B. G. M.
|
|
<strong>Ptosis as a feature of late-onset glycogenosis type II.</strong>
|
|
Neurology 67: 2261-2262, 2006.
|
|
|
|
|
|
[PubMed: 17190962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000249183.39952.3e]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hagemans, M. L. C., Winkel, L. P. F., Hop, W. C. J., Reuser, A. J. J., Van Doorn, P. A., Van der Ploeg, A. T.
|
|
<strong>Disease severity in children and adults with Pompe disease related to age and disease duration.</strong>
|
|
Neurology 64: 2139-2141, 2005.
|
|
|
|
|
|
[PubMed: 15985590]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.WNL.0000165979.46537.56]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S.
|
|
<strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong>
|
|
Molec. Genet. Metab. 126: 106-116, 2019.
|
|
|
|
|
|
[PubMed: 30655185]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2018.08.009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hers, H. G.
|
|
<strong>Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease).</strong>
|
|
Biochem. J. 86: 11-16, 1963.
|
|
|
|
|
|
[PubMed: 13954110]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj0860011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hirschhorn, K., Nadler, H. L., Waithe, W. I., Brown, B. I., Hirschhorn, R.
|
|
<strong>Pompe's disease: detection of heterozygotes by lymphocyte stimulation.</strong>
|
|
Science 166: 1632-1633, 1969.
|
|
|
|
|
|
[PubMed: 5360584]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.166.3913.1632]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoefsloot, L. H., van der Ploeg, A. T., Kroos, M. A., Hoogeveen-Westerveld, M., Oostra, B. A., Reuser, A. J. J.
|
|
<strong>Adult and infantile glycogenosis type II in one family, explained by allelic diversity.</strong>
|
|
Am. J. Hum. Genet. 46: 45-52, 1990.
|
|
|
|
|
|
[PubMed: 2403755]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hudgson, P., Gardner-Medwin, D., Worsfold, M., Pennington, R. J. T., Walton, J. N.
|
|
<strong>Adult myopathy from glycogen storage disease due to acid maltase deficiency.</strong>
|
|
Brain 91: 435-462, 1968.
|
|
|
|
|
|
[PubMed: 5247277]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/91.3.435]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huggins, E., Holland, M., Case, L. E., Blount, J., Landstrom, A. P., Jones, H. N., Kishnani, P. S.
|
|
<strong>Early clinical phenotype of late onset Pompe disease: lessons learned from newborn screening.</strong>
|
|
Molec. Genet. Metab. 135: 179-185, 2022.
|
|
|
|
|
|
[PubMed: 35123877]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2022.01.003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Iancu, T. C., Lerner, A., Shiloh, H., Bashan, N., Moses, S.
|
|
<strong>Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.</strong>
|
|
Europ. J. Pediat. 147: 372-376, 1988.
|
|
|
|
|
|
[PubMed: 3135192]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00496413]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isaacs, H., Savage, N., Badenhorst, M., Whistler, T.
|
|
<strong>Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 49: 1011-1018, 1986.
|
|
|
|
|
|
[PubMed: 3093639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.49.9.1011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jones, H. N., Hobson-Webb, L. D., Kuchibhatia, M., Crisp, K. D., Whyte-Rayson, A., Batten, M. T., Zwelling, P. J., Kishnani, P. S.
|
|
<strong>Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.</strong>
|
|
Molec. Genet. Metab. 133: 261-268, 2021.
|
|
|
|
|
|
[PubMed: 34053870]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2021.05.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kallwass, H., Carr, C., Gerrein, J., Titlow, M., Pomponio, R., Bali, D., Dai, J., Kishnani, P., Skrinar, A., Corzo, D., Keutzer, J.
|
|
<strong>Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.</strong>
|
|
Molec. Genet. Metab. 90: 449-452, 2007. Note: Erratum: Molec. Genet. Metab. 92: 285 only, 2007.
|
|
|
|
|
|
[PubMed: 17270480]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2006.12.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karpati, G., Carpenter, S., Eisen, A., Aube, M., DiMauro, S.
|
|
<strong>The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.</strong>
|
|
Ann. Neurol. 1: 276-280, 1977.
|
|
|
|
|
|
[PubMed: 889315]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410010314]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kikuchi, T., Yang, H. W., Pennybacker, M., Ichihara, N., Mizutani, M., Van Hove, J. L. K., Chen, Y.-T.
|
|
<strong>Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail.</strong>
|
|
J. Clin. Invest. 101: 827-833, 1998.
|
|
|
|
|
|
[PubMed: 9466978]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI1722]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Korlimarla, A., Spiridigliozzi, G. A., Crisp, K., Herbert, M., Chen, S., Malinzak, M., Stefanescu, M., Austin, S. L., Cope, H., Zimmerman, K., Jones, H., Provenzale, J. M., Kishnani, P. S.
|
|
<strong>Novel approaches to quantify CNS involvement in children with Pompe disease.</strong>
|
|
Neurology 95: e718-e732, 2020. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 32518148]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000009979]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koster, J. F., Busch, H. F. M., Slee, R. G., van Weerden, T. W.
|
|
<strong>Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.</strong>
|
|
Clin. Chim. Acta 87: 451-453, 1978.
|
|
|
|
|
|
[PubMed: 28188]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0009-8981(78)90191-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kretzschmar, H. A., Wagner, H., Hubner, G., Danek, A., Witt, T. N., Mehraein, P.
|
|
<strong>Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.</strong>
|
|
J. Neurol. Sci. 98: 169-183, 1990.
|
|
|
|
|
|
[PubMed: 2243227]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(90)90258-o]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R.
|
|
<strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong>
|
|
J. Med. Genet. 32: 836-837, 1995.
|
|
|
|
|
|
[PubMed: 8558570]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.10.836-a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J.
|
|
<strong>Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.</strong>
|
|
Hum. Mutat. 9: 17-22, 1997.
|
|
|
|
|
|
[PubMed: 8990003]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laforet, P., Nicolino, M., Eymard, B., Puech, J. P., Caillaud, C., Poenaru, L., Fardeau, M.
|
|
<strong>Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.</strong>
|
|
Neurology 55: 1122-1128, 2000.
|
|
|
|
|
|
[PubMed: 11071489]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.55.8.1122]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lam, C. W., Yuen, Y. P., Chan, K. Y., Tong, S. F., Lai, C. K., Chow, T. C., Lee, K. C., Chan, Y. W., Martiniuk, F.
|
|
<strong>Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.</strong>
|
|
Neurology 60: 715-717, 2003.
|
|
|
|
|
|
[PubMed: 12601120]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000048661.95327.bf]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loonen, M. C. B., Busch, H. F. M., Koster, J. F., Martin, J. J., Niermeijer, M. F., Schram, A. W., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M.
|
|
<strong>A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.</strong>
|
|
Neurology 31: 1209-1216, 1981.
|
|
|
|
|
|
[PubMed: 6810200]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.31.10.1209]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loonen, M. C. B., Schram, A. W., Koster, J. F., Niermeijer, M. F., Busch, H. F. M., Martin, J. J., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M.
|
|
<strong>Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).</strong>
|
|
Clin. Genet. 19: 55-63, 1981.
|
|
|
|
|
|
[PubMed: 7006871]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00668.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Makos, M. M., McComb, R. D., Hart, M. N., Bennett, D. R.
|
|
<strong>Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship.</strong>
|
|
Ann. Neurol. 22: 629-633, 1987.
|
|
|
|
|
|
[PubMed: 3322184]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410220512]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Margolis, M. L., Hill, A. R.
|
|
<strong>Acid maltase deficiency in an adult: evidence for improvement in respiratory function with high-protein dietary therapy.</strong>
|
|
Am. Rev. Resp. Dis. 134: 328-331, 1986.
|
|
|
|
|
|
[PubMed: 3090917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1164/arrd.1986.134.2.328]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R.
|
|
<strong>Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.</strong>
|
|
Am. J. Hum. Genet. 47: 440-445, 1990.
|
|
|
|
|
|
[PubMed: 2203258]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martiniuk, F., Chen, A., Mack, A., Arvanitopoulos, E., Chen, Y., Rom, W. N., Codd, W. J., Hanna, B., Alcabes, P., Raben, N., Plotz, P.
|
|
<strong>Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (Letter)</strong>
|
|
Am. J. Med. Genet. 79: 69-72, 1998.
|
|
|
|
|
|
[PubMed: 9738873]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsuishi, T., Yoshino, M., Terasawa, K., Nonaka, I.
|
|
<strong>Childhood acid maltase deficiency: a clinical, biochemical, and morphologic study of three patients.</strong>
|
|
Arch. Neurol. 41: 47-52, 1984.
|
|
|
|
|
|
[PubMed: 6360103]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1984.04050130053022]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mehler, M., DiMauro, S.
|
|
<strong>Residual acid maltase activity in late-onset acid maltase deficiency.</strong>
|
|
Neurology 27: 178-184, 1977.
|
|
|
|
|
|
[PubMed: 264606]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.27.2.178]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Molho, M., Katz, I., Schwartz, E., Shemesh, Y., Sadeh, M., Wolf, E.
|
|
<strong>Familial bilateral paralysis of diaphragm: adult onset.</strong>
|
|
Chest 91: 466-467, 1987.
|
|
|
|
|
|
[PubMed: 3816327]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1378/chest.91.3.466]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M. G.
|
|
<strong>Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.</strong>
|
|
Hum. Mutat. 27: 999-1006, 2006.
|
|
|
|
|
|
[PubMed: 16917947]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20374]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nishimoto, J., Inui, K., Okada, S., Ishigami, W., Hirota, S., Yamano, T., Yabuuchi, H.
|
|
<strong>A family with pseudodeficiency of acid alpha-glucosidase.</strong>
|
|
Clin. Genet. 33: 254-261, 1988.
|
|
|
|
|
|
[PubMed: 3282727]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03446.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pompe, J. C.
|
|
<strong>Over idiopathische hypertrophie van het hart.</strong>
|
|
Ned. Tijdschr. Geneeskd. 76: 304-312, 1932.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pongratz, D., Schlossmacher, I., Koppenwallner, C., Hubner, G.
|
|
<strong>An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.</strong>
|
|
Path. Europ. 11: 39-44, 1976.
|
|
|
|
|
|
[PubMed: 132627]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., Jones, H. N., Phornphutkul, C., Wang, R. Y., Young, S. P., Kishnani, P. S.
|
|
<strong>The emerging phenotype of long-term survivors with infantile Pompe disease.</strong>
|
|
Genet. Med. 14: 800-810, 2012.
|
|
|
|
|
|
[PubMed: 22538254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/gim.2012.44]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raben, N., Lu, N., Nagaraju, K., Rivera, Y., Lee, A., Yan, B., Byrne, B., Meikle, P. J., Umapathysivam, K., Hopwood, J. J., Plotz, P. H.
|
|
<strong>Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.</strong>
|
|
Hum. Molec. Genet. 10: 2039-2047, 2001.
|
|
|
|
|
|
[PubMed: 11590121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/10.19.2039]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., LaMarca, M., King, C., Ward, J., Sauer, B., Plotz, P.
|
|
<strong>Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.</strong>
|
|
J. Biol. Chem. 273: 19086-19092, 1998.
|
|
|
|
|
|
[PubMed: 9668092]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.30.19086]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reuser, A. J. J., Koster, J. F., Hoogeveen, A., Galjaard, H.
|
|
<strong>Biochemical, immunological and cell genetic studies in glycogenosis type II.</strong>
|
|
Am. J. Hum. Genet. 30: 132-143, 1978.
|
|
|
|
|
|
[PubMed: 350041]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reuser, A. J. J., Kroos, M., Willemsen, R., Swallow, D., Tager, J. M., Galjaard, H.
|
|
<strong>Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.</strong>
|
|
J. Clin. Invest. 79: 1689-1699, 1987.
|
|
|
|
|
|
[PubMed: 3108320]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosenow, E. C., Engel, A. G.
|
|
<strong>Acid maltase deficiency in adults presenting as respiratory failure.</strong>
|
|
Am. J. Med. 64: 485-491, 1978.
|
|
|
|
|
|
[PubMed: 345804]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(78)90235-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Salafsky, I. S., Nadler, H. L.
|
|
<strong>Deficiency of acid alpha glucosidase in the urine of patients with Pompe disease.</strong>
|
|
J. Pediat. 82: 294-298, 1973.
|
|
|
|
|
|
[PubMed: 4265199]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(73)80174-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shanske, S., DiMauro, S.
|
|
<strong>Late-onset acid maltase deficiency: biochemical studies of leukocytes.</strong>
|
|
J. Neurol. Sci. 50: 57-62, 1981.
|
|
|
|
|
|
[PubMed: 7014786]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(81)90041-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sivak, E. D., Salanga, V. D., Wilbourn, A. J., Mitsumoto, H., Golish, J.
|
|
<strong>Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis.</strong>
|
|
Ann. Neurol. 9: 613-615, 1981.
|
|
|
|
|
|
[PubMed: 6789760]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410090618]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Slonim, A. E., Bulone, L., Ritz, S., Goldberg, T., Chen, A., Martiniuk, F.
|
|
<strong>Identification of two subtypes of infantile acid maltase deficiency.</strong>
|
|
J. Pediat. 137: 283-285, 2000.
|
|
|
|
|
|
[PubMed: 10931430]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1067/mpd.2000.107112]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Slonim, A. E., Coleman, R. A., McElligot, M. A., Najjar, J., Hirschhorn, K., Labadie, G. U., Mrak, R., Evans, O. B., Shipp, E., Presson, R.
|
|
<strong>Improvement of muscle function in acid maltase deficiency by high-protein therapy.</strong>
|
|
Neurology 33: 34-38, 1983.
|
|
|
|
|
|
[PubMed: 6401355]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.33.1.34]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, H. L., Amick, L. D., Sidbury, J. B., Jr.
|
|
<strong>Type II glycogenosis.</strong>
|
|
Am. J. Dis. Child. 3: 475-481, 1966.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, J., Zellweger, H., Afifi, A. K.
|
|
<strong>Muscular form of glycogenosis, type II (Pompe).</strong>
|
|
Neurology 17: 537-549, 1967.
|
|
|
|
|
|
[PubMed: 5229488]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.17.6.537]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, W. E., Sullivan-Saarela, J. A., Li, J. S., Cox, G. F., Corzo, D., Chen, Y.-T., Kishnani, P. S.
|
|
<strong>Sibling phenotype concordance in classical infantile Pompe disease.</strong>
|
|
Am. J. Med. Genet. 143A: 2493-2501, 2007.
|
|
|
|
|
|
[PubMed: 17853454]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31936]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, Y., Tsuji, A., Omura, K., Nakamura, G., Awa, S., Kroos, M., Reuser, A. J. J.
|
|
<strong>Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.</strong>
|
|
Clin. Genet. 33: 376-385, 1988.
|
|
|
|
|
|
[PubMed: 3288378]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03465.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Swaiman, K. F., Kennedy, W. R., Sauls, H. S.
|
|
<strong>Late infantile acid maltase deficiency.</strong>
|
|
Arch. Neurol. 18: 642-648, 1968.
|
|
|
|
|
|
[PubMed: 5240358]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1968.00470360064006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tan, Q. K.-G., Stockton, D. W., Pivnick, E., Choudhri, A. F., Hines-Dowell, S., Pena, L. D. M., Deimling, M. A., Freemark, M. S., Kishnani, P. S.
|
|
<strong>Premature pubarche in children with Pompe disease.</strong>
|
|
J. Pediat. 166: 1075-1078, 2015.
|
|
|
|
|
|
[PubMed: 25687635]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jpeds.2014.12.074]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taniguchi, N., Kato, E., Yoshida, H., Iwaki, S., Ohki, T., Koizumi, S.
|
|
<strong>Alpha-glucosidase activity in human leukocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.</strong>
|
|
Clin. Chim. Acta 89: 293-299, 1978.
|
|
|
|
|
|
[PubMed: 361294]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0009-8981(78)90328-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trend, P. St. J., Wiles, C. M., Spencer, G. T., Morgan-Hughes, J. A., Lake, B. D., Patrick, A. D.
|
|
<strong>Acid maltase deficiency in adults: diagnosis and management in five cases.</strong>
|
|
Brain 108: 845-860, 1985.
|
|
|
|
|
|
[PubMed: 3865697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/108.4.845]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van den Hout, H. M. P., Hop, W., van Diggelen, O. P., Smeitink, J. A. M., Smit, G. P. A., Poll-The, B.-T. T., Bakker, H. D., Loonen, M. C. B., de Klerk, J. B. C., Reuser, A. J. J., van der Ploeg, A. T.
|
|
<strong>The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.</strong>
|
|
Pediatrics 112: 332-340, 2003.
|
|
|
|
|
|
[PubMed: 12897283]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1542/peds.112.2.332]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Walvoort, H. C., Dormans, J. A. M. A., van den Ingh, T. S. G. A. M.
|
|
<strong>Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).</strong>
|
|
J. Inherit. Metab. Dis. 8: 38-46, 1985.
|
|
|
|
|
|
[PubMed: 3921759]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01805484]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R.
|
|
<strong>Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.</strong>
|
|
Genet. Med. 13: 457-484, 2011.
|
|
|
|
|
|
[PubMed: 21502868]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e318211a7e1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wokke, J. H. J., Ausems, M. G. E. M., van den Boogaard, M.-J. H., Ippel, E. F., van Diggelen, O., Kroos, M. A., Boer, M., Jennekens, F. G. I., Reuser, A. J. J., Ploos van Amstel, H. K.
|
|
<strong>Genotype-phenotype correlation in adult-onset acid maltase deficiency.</strong>
|
|
Ann. Neurol. 38: 450-454, 1995.
|
|
|
|
|
|
[PubMed: 7668832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410380316]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zellweger, H., Brown, B. I., McCormick, W. F., Jun-Bi, T.
|
|
<strong>A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency.</strong>
|
|
Ann. Paediat. 205: 413-437, 1965.
|
|
|
|
|
|
[PubMed: 5217754]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Sonja A. Rasmussen - updated : 07/19/2022<br>Hilary J. Vernon - updated : 04/07/2022<br>Hilary J. Vernon - updated : 07/15/2021<br>Hilary J. Vernon - updated : 07/07/2021<br>Hilary J. Vernon - updated : 10/14/2020<br>Ada Hamosh - updated : 10/3/2012<br>Ada Hamosh - updated : 9/28/2012<br>Ada Hamosh - updated : 9/28/2012<br>George E. Tiller - updated : 2/8/2011<br>Ada Hamosh - updated : 7/30/2010<br>Cassandra L. Kniffin - updated : 11/25/2009<br>Cassandra L. Kniffin - updated : 3/12/2009<br>Cassandra L. Kniffin - updated : 3/4/2009<br>Cassandra L. Kniffin - updated : 12/5/2007<br>Ada Hamosh - updated : 6/14/2007<br>Cassandra L. Kniffin - updated : 10/4/2006<br>Cassandra L. Kniffin - updated : 5/30/2006<br>Marla J. F. O'Neill - updated : 3/20/2006<br>Cassandra L. Kniffin - updated : 11/2/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Natalie E. Krasikov - updated : 3/12/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Patricia A. Hartz - updated : 3/25/2002<br>George E. Tiller - updated : 2/6/2002<br>Victor A. McKusick - updated : 9/19/2001<br>Ada Hamosh - updated : 8/29/2001<br>Victor A. McKusick - updated : 3/24/2000<br>George E. Tiller - updated : 3/23/2000<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 5/14/1999<br>Orest Hurko - updated : 4/2/1999<br>Victor A. McKusick - updated : 9/16/1998<br>Victor A. McKusick - updated : 8/18/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 4/29/1998<br>Victor A. McKusick - updated : 3/25/1998<br>Victor A. McKusick - updated : 2/21/1997<br>Iosif W. Lurie - updated : 10/1/1996<br>Moyra Smith - updated : 3/15/1996<br>Orest Hurko - updated : 2/5/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/3/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 07/03/2024<br>alopez : 11/10/2022<br>carol : 07/20/2022<br>carol : 07/19/2022<br>carol : 04/08/2022<br>carol : 04/07/2022<br>carol : 07/15/2021<br>carol : 07/12/2021<br>carol : 07/08/2021<br>carol : 07/07/2021<br>carol : 10/14/2020<br>carol : 10/12/2020<br>carol : 05/08/2014<br>terry : 4/4/2013<br>alopez : 10/3/2012<br>alopez : 10/1/2012<br>terry : 9/28/2012<br>terry : 9/28/2012<br>carol : 10/27/2011<br>wwang : 3/14/2011<br>terry : 2/8/2011<br>terry : 10/12/2010<br>alopez : 7/30/2010<br>terry : 7/30/2010<br>alopez : 12/21/2009<br>wwang : 12/10/2009<br>ckniffin : 11/25/2009<br>wwang : 9/1/2009<br>wwang : 3/18/2009<br>ckniffin : 3/12/2009<br>wwang : 3/10/2009<br>ckniffin : 3/4/2009<br>wwang : 1/8/2008<br>ckniffin : 12/5/2007<br>alopez : 6/22/2007<br>terry : 6/14/2007<br>carol : 4/17/2007<br>wwang : 10/20/2006<br>ckniffin : 10/4/2006<br>wwang : 6/12/2006<br>ckniffin : 5/30/2006<br>alopez : 4/12/2006<br>wwang : 3/21/2006<br>terry : 3/20/2006<br>wwang : 11/11/2005<br>ckniffin : 11/2/2005<br>ckniffin : 7/26/2005<br>carol : 6/14/2005<br>ckniffin : 6/9/2005<br>carol : 3/23/2004<br>terry : 3/12/2004<br>carol : 2/19/2004<br>terry : 2/19/2004<br>tkritzer : 9/8/2003<br>ckniffin : 8/27/2003<br>ckniffin : 4/11/2002<br>carol : 4/10/2002<br>ckniffin : 4/10/2002<br>carol : 3/25/2002<br>terry : 3/25/2002<br>cwells : 2/18/2002<br>cwells : 2/6/2002<br>mcapotos : 12/19/2001<br>alopez : 9/19/2001<br>alopez : 9/19/2001<br>cwells : 9/14/2001<br>cwells : 8/30/2001<br>terry : 8/29/2001<br>alopez : 5/1/2001<br>mcapotos : 4/18/2000<br>mcapotos : 4/18/2000<br>mcapotos : 4/17/2000<br>terry : 3/24/2000<br>alopez : 3/23/2000<br>alopez : 11/12/1999<br>terry : 11/8/1999<br>mgross : 9/9/1999<br>mgross : 6/3/1999<br>mgross : 5/28/1999<br>terry : 5/14/1999<br>carol : 4/2/1999<br>alopez : 9/16/1998<br>terry : 9/16/1998<br>dkim : 9/10/1998<br>carol : 8/18/1998<br>terry : 8/18/1998<br>carol : 6/3/1998<br>alopez : 5/20/1998<br>terry : 5/13/1998<br>carol : 5/11/1998<br>carol : 5/8/1998<br>terry : 4/29/1998<br>alopez : 3/25/1998<br>terry : 3/20/1998<br>dholmes : 9/30/1997<br>jenny : 8/22/1997<br>jenny : 8/20/1997<br>mark : 7/3/1997<br>jenny : 2/24/1997<br>jenny : 2/21/1997<br>terry : 2/5/1997<br>terry : 1/23/1997<br>terry : 1/21/1997<br>carol : 10/1/1996<br>mark : 7/5/1996<br>terry : 5/13/1996<br>terry : 4/15/1996<br>mark : 3/15/1996<br>mark : 3/4/1996<br>terry : 2/21/1996<br>mark : 2/5/1996<br>terry : 1/31/1996<br>mark : 6/11/1995<br>pfoster : 11/30/1994<br>davew : 6/2/1994<br>terry : 5/16/1994<br>carol : 5/11/1994<br>mimadm : 4/18/1994
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|