904 lines
No EOL
82 KiB
XML
904 lines
No EOL
82 KiB
XML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
|
||
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- meta -->
|
||
<meta name="keywords" content="C0268482, disease or syndrome, disorder of tyrosine metabolism, disturbance of tyrosine metabolism, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
|
||
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="retrieve" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_uidlist" content="541330" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
|
||
|
||
|
||
<!-- title -->
|
||
<title>Disorder of tyrosine metabolism (Concept Id: C0268482)
|
||
- MedGen - NCBI</title>
|
||
|
||
<!-- Common JS and CSS -->
|
||
|
||
<script type="text/javascript">
|
||
var ncbi_startTime = new Date();
|
||
</script>
|
||
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
|
||
|
||
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8B23C37D2E01810000000000A70084.m_29" /><script type="text/javascript"><!--
|
||
var ScriptPath = '/portal/';
|
||
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
|
||
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
|
||
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
|
||
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
|
||
--></script>
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
|
||
|
||
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
|
||
|
||
|
||
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
|
||
</script></head>
|
||
<body>
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<!-- no javascript message -->
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
|
||
<div class="header">
|
||
<!-- logo -->
|
||
<div class="res_logo" id="gene-top">
|
||
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
|
||
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
|
||
</div>
|
||
<!-- SearchBar -->
|
||
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books">Books</option><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="clinvar" class="last">ClinVar</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
|
||
<div id="maincontent" class="col nine_col">
|
||
<div class="content">
|
||
<div>
|
||
|
||
|
||
</div>
|
||
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
|
||
|
||
</div>
|
||
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=541330
|
||
ConceptID=C0268482
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Disorder of tyrosine metabolism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>541330</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>disorder of tyrosine metabolism; Disturbance of tyrosine metabolism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of tyrosine metabolism (37200009); Disturbance of tyrosine metabolism (37200009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017307" target="_blank">MONDO:0017307</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284818">ORPHA284818</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268482[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=541330">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Disorder of tyrosine metabolism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Disorder of tyrosine metabolism</span><ul><li><span class="TLline"><a href="/medgen/1413" ref="tree=MeSH" title="MedGen record for Alkaptonuria">Alkaptonuria</a></span></li><li><span class="TLline"><a href="/medgen/382128" ref="tree=MeSH" title="MedGen record for Autosomal recessive DOPA responsive dystonia">Autosomal recessive DOPA responsive dystonia</a></span></li><li><span class="TLline"><a href="/medgen/419319" ref="tree=MeSH" title="MedGen record for Hawkinsinuria">Hawkinsinuria</a></span></li><li><span class="TLline"><a href="/medgen/541331" ref="tree=MeSH" title="MedGen record for Transient tyrosinemia of the newborn">Transient tyrosinemia of the newborn</a></span></li><li><span class="TLline"><a href="/medgen/75688" ref="tree=MeSH" title="MedGen record for Tyrosinemia type I">Tyrosinemia type I</a></span></li><li><span class="TLline"><a href="/medgen/75687" ref="tree=MeSH" title="MedGen record for Tyrosinemia type II">Tyrosinemia type II</a></span></li><li><span class="TLline"><a href="/medgen/78694" ref="tree=MeSH" title="MedGen record for Tyrosinemia type III">Tyrosinemia type III</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24515874">Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartlett DC,
|
||
Lloyd C,
|
||
McKiernan PJ,
|
||
Newsome PN</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Sep;37(5):745-52.
|
||
Epub 2014 Feb 11
|
||
doi: 10.1007/s10545-014-9683-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24515874" target="_blank">24515874</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22disorder%20of%20tyrosine%20metabolism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32466960">Aortic distensibility in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimmapuram R,
|
||
Bandettini WP,
|
||
Shanbhag SM,
|
||
Yu JH,
|
||
O'Brien KJ,
|
||
Gahl WA,
|
||
Introne WJ,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Aug;130(4):289-296.
|
||
Epub 2020 May 18
|
||
doi: 10.1016/j.ymgme.2020.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32466960" target="_blank">32466960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24515874">Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartlett DC,
|
||
Lloyd C,
|
||
McKiernan PJ,
|
||
Newsome PN</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Sep;37(5):745-52.
|
||
Epub 2014 Feb 11
|
||
doi: 10.1007/s10545-014-9683-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24515874" target="_blank">24515874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24772955">Alkaptonuria: a very rare metabolic disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aquaron R</span><br />
|
||
<span class="medgenPMjournal">Indian J Biochem Biophys</span>
|
||
2013 Oct;50(5):339-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24772955" target="_blank">24772955</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23357094">Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakur S,
|
||
Markman P,
|
||
Cullen H</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2013 Oct;22(10):870-2.
|
||
Epub 2013 Jan 26
|
||
doi: 10.1016/j.hlc.2012.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23357094" target="_blank">23357094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16601868">Cardiomyopathy in tyrosinaemia type I is common but usually benign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora N,
|
||
Stumper O,
|
||
Wright J,
|
||
Kelly DA,
|
||
McKiernan PJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2006 Feb;29(1):54-7.
|
||
doi: 10.1007/s10545-006-0203-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16601868" target="_blank">16601868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20tyrosine%20metabolism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32466960">Aortic distensibility in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimmapuram R,
|
||
Bandettini WP,
|
||
Shanbhag SM,
|
||
Yu JH,
|
||
O'Brien KJ,
|
||
Gahl WA,
|
||
Introne WJ,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Aug;130(4):289-296.
|
||
Epub 2020 May 18
|
||
doi: 10.1016/j.ymgme.2020.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32466960" target="_blank">32466960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31342835">Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz-Camino H,
|
||
Vazquez-Cantu DL,
|
||
Zea-Rey AV,
|
||
López-Valdez J,
|
||
Jiménez-Lozano J,
|
||
Gómez-Gutiérrez R,
|
||
Cantú-Reyna C</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2020 Feb;48(2):300060519863543.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1177/0300060519863543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31342835" target="_blank">31342835</a><a href="/pmc/articles/PMC7581980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27816602">Alkaptonuric Ochronosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh O,
|
||
Muthukrishna Pandian R,
|
||
Sudhakar Kekre N</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2017 Feb;100:e3-e4.
|
||
Epub 2016 Nov 2
|
||
doi: 10.1016/j.urology.2016.09.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27816602" target="_blank">27816602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24952314">Urine homogentisic acid and tyrosine: simultaneous analysis by liquid chromatography tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes AT,
|
||
Milan AM,
|
||
Christensen P,
|
||
Ross G,
|
||
Davison AS,
|
||
Gallagher JA,
|
||
Dutton JJ,
|
||
Ranganath LR</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2014 Jul 15;963:106-12.
|
||
Epub 2014 Jun 7
|
||
doi: 10.1016/j.jchromb.2014.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24952314" target="_blank">24952314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22689837">Aortic valve ochronosis: a rare manifestation of alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steger CM</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2011 Jul 28;2011
|
||
doi: 10.1136/bcr.04.2011.4119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22689837" target="_blank">22689837</a><a href="/pmc/articles/PMC3149459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20tyrosine%20metabolism%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34506697">Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zöggeler T,
|
||
Ramoser G,
|
||
Höller A,
|
||
Jörg-Streller M,
|
||
Janzen N,
|
||
Ramoni A,
|
||
Scholl-Bürgi S,
|
||
Karall D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Feb 23;35(2):259-265.
|
||
Epub 2021 Sep 10
|
||
doi: 10.1515/jpem-2021-0465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34506697" target="_blank">34506697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488560">Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomez-Ospina N,
|
||
Scott AI,
|
||
Oh GJ,
|
||
Potter D,
|
||
Goel VV,
|
||
Destino L,
|
||
Baugh N,
|
||
Enns GM,
|
||
Niemi AK,
|
||
Cowan TM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2016 Nov;39(6):821-829.
|
||
Epub 2016 Aug 3
|
||
doi: 10.1007/s10545-016-9963-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488560" target="_blank">27488560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26596578">Acute fatal metabolic complications in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davison AS,
|
||
Milan AM,
|
||
Gallagher JA,
|
||
Ranganath LR</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2016 Mar;39(2):203-10.
|
||
Epub 2015 Nov 23
|
||
doi: 10.1007/s10545-015-9902-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26596578" target="_blank">26596578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25680927">Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gertsman I,
|
||
Gangoiti JA,
|
||
Nyhan WL,
|
||
Barshop BA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Mar;114(3):431-7.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1016/j.ymgme.2015.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25680927" target="_blank">25680927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16601868">Cardiomyopathy in tyrosinaemia type I is common but usually benign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora N,
|
||
Stumper O,
|
||
Wright J,
|
||
Kelly DA,
|
||
McKiernan PJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2006 Feb;29(1):54-7.
|
||
doi: 10.1007/s10545-006-0203-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16601868" target="_blank">16601868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20tyrosine%20metabolism%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38256395">A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rokaitė R,
|
||
Čibirkaitė A,
|
||
Zeleckytė V,
|
||
Lazdinytė G,
|
||
Dženkaitis M</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Jan 11;60(1)
|
||
doi: 10.3390/medicina60010135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256395" target="_blank">38256395</a><a href="/pmc/articles/PMC10820469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32466960">Aortic distensibility in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimmapuram R,
|
||
Bandettini WP,
|
||
Shanbhag SM,
|
||
Yu JH,
|
||
O'Brien KJ,
|
||
Gahl WA,
|
||
Introne WJ,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Aug;130(4):289-296.
|
||
Epub 2020 May 18
|
||
doi: 10.1016/j.ymgme.2020.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32466960" target="_blank">32466960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8929295">Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dubois J,
|
||
Garel L,
|
||
Patriquin H,
|
||
Paradis K,
|
||
Forget S,
|
||
Filiatrault D,
|
||
Grignon A,
|
||
Russo P,
|
||
St-Vil D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1996 Dec;26(12):845-51.
|
||
doi: 10.1007/BF03178035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8929295" target="_blank">8929295</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20tyrosine%20metabolism%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32466960">Aortic distensibility in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimmapuram R,
|
||
Bandettini WP,
|
||
Shanbhag SM,
|
||
Yu JH,
|
||
O'Brien KJ,
|
||
Gahl WA,
|
||
Introne WJ,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Aug;130(4):289-296.
|
||
Epub 2020 May 18
|
||
doi: 10.1016/j.ymgme.2020.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32466960" target="_blank">32466960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26596578">Acute fatal metabolic complications in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davison AS,
|
||
Milan AM,
|
||
Gallagher JA,
|
||
Ranganath LR</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2016 Mar;39(2):203-10.
|
||
Epub 2015 Nov 23
|
||
doi: 10.1007/s10545-015-9902-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26596578" target="_blank">26596578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25628464">Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes AT,
|
||
Milan AM,
|
||
Davison AS,
|
||
Christensen P,
|
||
Ross G,
|
||
Gallagher JA,
|
||
Dutton JJ,
|
||
Ranganath LR</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Biochem</span>
|
||
2015 Sep;52(Pt 5):597-605.
|
||
Epub 2015 Jan 27
|
||
doi: 10.1177/0004563215571969.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25628464" target="_blank">25628464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24952314">Urine homogentisic acid and tyrosine: simultaneous analysis by liquid chromatography tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes AT,
|
||
Milan AM,
|
||
Christensen P,
|
||
Ross G,
|
||
Davison AS,
|
||
Gallagher JA,
|
||
Dutton JJ,
|
||
Ranganath LR</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2014 Jul 15;963:106-12.
|
||
Epub 2014 Jun 7
|
||
doi: 10.1016/j.jchromb.2014.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24952314" target="_blank">24952314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22127706">The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor AM,
|
||
Boyde A,
|
||
Wilson PJ,
|
||
Jarvis JC,
|
||
Davidson JS,
|
||
Hunt JA,
|
||
Ranganath LR,
|
||
Gallagher JA</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheum</span>
|
||
2011 Dec;63(12):3887-96.
|
||
doi: 10.1002/art.30606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22127706" target="_blank">22127706</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20tyrosine%20metabolism%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268482%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268482%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268482%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=284818" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Disorder%20of%20tyrosine%20metabolism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22disorder%20of%20tyrosine%20metabolism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Disorder%20of%20tyrosine%20metabolism" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/21127/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Disorder%20of%20tyrosine%20metabolism" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Disorder%20of%20tyrosine%20metabolism%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268482[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268482[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=541330" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=541330" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2e78c67c23b31e05f0463">Disorder of tyrosine metabolism</a>
|
||
<div class="ralinkpop offscreen_noflow">Disorder of tyrosine metabolism<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2e787cde49f3df775fd8a">Pigmentation of the sclera</a>
|
||
<div class="ralinkpop offscreen_noflow">Pigmentation of the sclera<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2e7842f30673f7b909368">Ochronosis disorder</a>
|
||
<div class="ralinkpop offscreen_noflow">Ochronosis disorder<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d2e78267c23b31e05eb7bd">Brown pigmentation of the conjunctiva</a>
|
||
<div class="ralinkpop offscreen_noflow">Brown pigmentation of the conjunctiva<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d2e77f84f3725e59dff38f">Vertebral fusion</a>
|
||
<div class="ralinkpop offscreen_noflow">Vertebral fusion<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=medgen&ncbi_pdid=FullReport&ncbi_phid=CE8B23C37D2E01810000000000A70084" /></noscript>
|
||
</div>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Facebook</title>
|
||
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
|
||
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
|
||
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1086">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Youtube</title>
|
||
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
|
||
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
|
||
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1101">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
|
||
</div>
|
||
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="2858" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
|
||
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal104 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
|
||
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
|
||
</html> |