nih-gov/pubmed.ncbi.nlm.nih.gov/16183799/index.html

5041 lines
No EOL
200 KiB
HTML
Raw Permalink Blame History

This file contains ambiguous Unicode characters

This file contains Unicode characters that might be confused with other characters. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<!DOCTYPE html>
<html lang="en" >
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
<meta charset="UTF-8">
<meta http-equiv="X-UA-Compatible" content="IE=edge">
<!-- Mobile properties -->
<meta name="HandheldFriendly" content="True">
<meta name="MobileOptimized" content="320">
<meta name="viewport" content="width=device-width, initial-scale=1.0">
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.google-analytics.com">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.b576742ffc3e.css" type="text/css">
<title>ETHE1 mutations are specific to ethylmalonic encephalopathy - PubMed</title>
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
<!-- Favicons -->
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
<!-- 192x192, as recommended for Android
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
-->
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
<!-- For Pinger + Google Optimize integration (NS-820) -->
<meta name="ncbi_sg_optimize_id" content="">
<!-- Mobile browser address bar color -->
<meta name="theme-color" content="#20558a">
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
<meta name="referrer" content="origin-when-cross-origin">
<meta name="ncbi_pinger_gtm_track" content="true"/>
<!-- Logging params: Pinger defaults -->
<meta name="ncbi_app" content="pubmed" />
<meta name="ncbi_db" content="pubmed" />
<meta name="ncbi_phid" content="4442000106AC114500002957333D162B.1.m_6" />
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
<meta name="log_category" content="literature" />
<meta name="ncbi_cost_center" content="pubmed" />
<!-- Logging params: Pinger custom -->
<meta name="ncbi_pdid" content="abstract" />
<meta name="log_op" content="retrieve" />
<meta name="uid" content="16183799" />
<meta name="ncbi_uid" content="16183799" />
<meta name="log_displayeduids" content="16183799" />
<meta name="log_source_db" content="pubmed,pmc" />
<meta name="log_icons_present" content="true" />
<meta name="ncbi_search_id" content="EsCKzEr10z3oXNPaBKrpSA:5bee62ea167bbfdb8b902ef80f4a7aec" />
<meta name="ncbi_adj_nav_search_id" content="XY3SHBzAFOdhTMSfzE2BKQ:5bee62ea167bbfdb8b902ef80f4a7aec" />
<!-- Social meta tags for unfurling urls -->
<meta name="description" content="Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic acrocyanos …"><meta name="keywords" content="pmid:16183799, PMC2563233, doi:10.1136/jmg.2005.036210, V Tiranti, E Briem, M Zeviani, Alleles, Blotting, Western, Brain Diseases, Metabolic / diagnosis, Brain Diseases, Metabolic / genetics*, Butyryl-CoA Dehydrogenase / genetics, Butyryl-CoA Dehydrogenase / physiology, DNA Mutational Analysis, Electrophoresis, Gel, Two-Dimensional, Humans, Malonates / analysis, Mitochondrial Proteins / chemistry, Mitochondrial Proteins / genetics*, Mitochondrial Proteins / metabolism, Models, Molecular, Mutation*, Nucleocytoplasmic Transport Proteins / chemistry, Nucleocytoplasmic Transport Proteins / genetics*, Nucleocytoplasmic Transport Proteins / metabolism, Phylogeny, Polymorphism, Single Nucleotide, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="ETHE1 mutations are specific to ethylmalonic encephalopathy - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/16183799/"><meta property="og:description" content="Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic acrocyanos …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="ETHE1 mutations are specific to ethylmalonic encephalopathy - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/16183799/"><meta name="twitter:description" content="Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic acrocyanos …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
<!-- OpenSearch XML -->
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
<!-- Disables severely broken elements when no JS -->
<noscript>
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
</noscript>
<meta name="citation_title" content="ETHE1 mutations are specific to ethylmalonic encephalopathy">
<meta name="citation_authors" content="Tiranti V;Briem E;Lamantea E;Mineri R;Papaleo E;De Gioia L;Forlani F;Rinaldo P;Dickson P;Abu-Libdeh B;Cindro-Heberle L;Owaidha M;Jack RM;Christensen E;Burlina A;Zeviani M;">
<meta name="citation_date" content="2006 Apr">
<meta name="citation_publisher" content="J Med Genet">
<meta name="citation_journal_title" content="Journal of medical genetics">
<meta name="citation_pmid" content="16183799">
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/16183799/">
<meta name="citation_volume" content="43">
<meta name="citation_issue" content="4">
<meta name="citation_doi" content="10.1136/jmg.2005.036210">
<meta name="citation_issn" content="1468-6244">
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/16183799/" />
</head>
<body >
<noscript>
<div class="no-script-banner" id="no-script-banner">
<div class="warning-message">
<div class="warning-message-text">
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
</div>
</div>
</div>
</noscript>
<div class="no-session-banner" id="no-session-banner" hidden>
<div class="warning-message">
<div class="warning-message-text">
Clipboard, Search History, and several other advanced features are temporarily unavailable.
</div>
<button class="close-banner-button"
title="Close Clipboard and Search History not available warning banner"
ref="linksrc=close_no_session_banner"
aria-controls="no-session-banner"
aria-label="Close Clipboard and Search History not available warning banner"
aria-expanded="true">
</button>
</div>
</div>
<a class="usa-skipnav" href="#article-details">
Skip to main page content
</a>
<!-- ========== BEGIN HEADER ========== -->
<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="usa-accordion-button usa-banner-button"
aria-expanded="false"
aria-controls="gov-banner-top"
>
<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"
>
<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 its official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure youre 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="https://www.ncbi.nlm.nih.gov/" 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">
<span class="fa fa-user" aria-hidden="true"></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"><span class="fa fa-times"></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>
<!-- ========== END HEADER ========== -->
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
<div class="inner-wrap">
<a class="pubmed-logo"
aria-label="Pubmed Logo"
href="/"
data-ga-category="featured_link"
data-ga-action="pubmed_logo">
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
</a>
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
</a>
<div role="search" class="search-input">
<div class="form-field ">
<label class="usa-sr-only" for="id_term">
Search:
</label>
<input
type="search"
name="term"
data-skip-ie-scroll-to-top=""
data-replace-term-with-exact=""
data-exact-query=""
placeholder=""
class="term-input"
required="required"
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
</div>
</div>
<!-- Create alert and Create RSS are buttons that look like links -->
<!-- Better for them to look like buttons but no space -->
<div class="search-links-wrapper content-page-layout">
<div class="search-links">
<a href="/advanced/"
class="search-input-link adv-search-link"
data-ga-category="featured_link"
data-ga-action="adv_search">Advanced</a>
<a href="/clipboard/"
class="search-input-link clipboard-link hidden"
data-ga-category="featured_link"
data-ga-action="clipboard">
Clipboard <span class="amount-in-clipboard"></span>
</a>
</div>
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
<a href="/help/"
data-ga-category="featured_link"
data-ga-action="user_guide">
User Guide
</a>
</span>
</div>
</div>
</form>
<div id="article-page-header">
<div id="article-top-actions-bar" class="article-top-actions-bar">
<div class="inner-wrap">
<div class="actions-container">
<div class="return-to-search">
</div>
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
<button id="save-results-panel-trigger"
type="button"
class="save-results save-results-panel-trigger"
aria-expanded="false"
aria-controls="save-action-panel"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="open">
Save
</button><button id="email-results-panel-trigger"
type="button"
class="email-results email-results-panel-trigger"
aria-expanded="false"
aria-controls="email-action-panel"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="open">
Email
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
type="button"
class="trigger more-actions-trigger"
ref="linksrc=show_moreactions_btn"
aria-label="Send to"
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
href="#"
role="button"
data-ga-category="save_share"
data-ga-action="clipboard"
data-ga-label="send">
Clipboard
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
</div>
<div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region">
<button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog">
<span class="button-label">Display options</span>
</button>
<div class="dropdown" hidden>
<div class="title">
Display options
</div>
<div class="content">
<div class="format-container">
<span class="option-label">
Format
</span>
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
</div>
</div>
</div>
<div id="article-panels-container" class="article-panels-container">
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Save citation to file
</h2>
<form id="save-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="action-panel-control-wrap">
<label for="save-action-format" class="action-panel-label">
Format:
</label>
<select id="save-action-format" name="results-format" class="action-panel-selector">
<option value="summary-text">Summary (text)</option>
<option value="pubmed-text">PubMed</option>
<option value="pmid">PMID</option>
<option value="abstract">Abstract (text)</option>
<option value="csv">CSV</option>
</select>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Save citations to file' panel"
ref="linksrc=close_save_panel"
aria-controls="save-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="email-action-panel"
class="email-action-panel action-panel"
aria-hidden="true"
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
data-recaptcha-enabled="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Email citation
</h2>
<form id="email-action-panel-form"
class="action-panel-content action-form"
action="/send-email/"
data-by-search-action="/results-export-email-by-search-data/"
data-by-ids-action="/send-email/"
data-by-search-method="post"
data-by-ids-method="post"
method="post"
>
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="action-panel-control-wrap">
<span class="action-panel-label">
Subject:
</span>
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 16183799 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 16183799"/>
<input type="hidden" name="email-subject-hash" value="0ebe25d2ec8898aef23731f769505912b191b5bcbd751798ed11c7d01faf9659"/>
</div>
<div class="action-panel-control-wrap">
<label for="email-to" class="action-panel-label required-field-asterisk">
To:
</label>
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="16183799">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://jmg.bmj.com/lookup/pmidlookup?view=long&amp;pmid=16183799"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3051&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=16183799&amp;db=pubmed&amp;nlmid=2985087R"
title="See full text options at HighWire"
data-ga-category="full_text"
data-ga-action="HighWire"
data-ga-label="16183799"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--highwire.stanford.edu-icons-externalservices-pubmed-custom-bmjjournals_final.gif" alt="HighWire full text link"><span class="text">
HighWire
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/16183799/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=16183799&amp;db=pubmed&amp;nlmid=2985087R"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="16183799"
><span class="text">
Free PMC article
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/16183799/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/16183799/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="16183799" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
Choose a collection:
</label><select id="collections-action-dialog-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="collections_button"
data-ga-action="select_collection"
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="add">
Add
</button><button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="cancel">
Cancel
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
title="Open dialog with more actions to take"
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region"><button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
Display options
</div><div class="content"><div class="format-container"><span class="option-label">
Format
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
<div class="social-sharing">
<h3 class="title">
Share
</h3>
<ul class="social-sharing-links usa-unstyled-list">
<li>
<a href="http://twitter.com/intent/tweet?text=ETHE1%20mutations%20are%20specific%20to%20ethylmalonic%20encephalopathy%20https%3A//pubmed.ncbi.nlm.nih.gov/16183799/"
class="share-link share-link-twitter"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Twitter"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="twitter"></a>
</li>
<li>
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/16183799/"
class="share-link share-link-facebook"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Facebook"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="fb"></a>
</li>
<li>
<div class="share-permalink">
<button class="trigger"
title="Show article permalink"
ref="linksrc=show_permalink_btn">
</button>
<div class="dropdown" hidden>
<div class="title">
Permalink
</div>
<div class="content">
<input type="text"
class="permalink-text"
value="https://pubmed.ncbi.nlm.nih.gov/16183799/"
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
title="Copy article permalink"
data-ga-category="save_share"
data-ga-action="link"
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
</div>
</div>
</div>
</li>
</ul>
</div>
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
<div class="full-view">
<h3 class="title">
Page navigation
</h3>
<ul class="items-list">
<li class="heading ">
<a href="#heading"
aria-label="navigate to Title &amp; authors section"
data-ga-category="page_nav"
data-ga-action="heading">
Title &amp; authors
</a>
</li>
<li class="abstract ">
<a href="#abstract"
aria-label="navigate to Abstract section"
data-ga-category="page_nav"
data-ga-action="abstract">
Abstract
</a>
</li>
<li class="conflict-of-interest ">
<a href="#conflict-of-interest"
aria-label="navigate to Conflict of interest statement section"
data-ga-category="page_nav"
data-ga-action="conflict-of-interest">
Conflict of interest statement
</a>
</li>
<li class="figures ">
<a href="#figures"
aria-label="navigate to Figures section"
data-ga-category="page_nav"
data-ga-action="figures">
Figures
</a>
</li>
<li class="similar ">
<a href="#similar"
aria-label="navigate to Similar articles section"
data-ga-category="page_nav"
data-ga-action="similar">
Similar articles
</a>
</li>
<li class="citedby ">
<a href="#citedby"
aria-label="navigate to Cited by section"
data-ga-category="page_nav"
data-ga-action="citedby">
Cited by
</a>
</li>
<li class="references ">
<a href="#references"
aria-label="navigate to References section"
data-ga-category="page_nav"
data-ga-action="references">
References
</a>
</li>
<li class="mesh-terms ">
<a href="#mesh-terms"
aria-label="navigate to MeSH terms section"
data-ga-category="page_nav"
data-ga-action="mesh-terms">
MeSH terms
</a>
</li>
<li class="substances ">
<a href="#substances"
aria-label="navigate to Substances section"
data-ga-category="page_nav"
data-ga-action="substances">
Substances
</a>
</li>
<li class="related-links ">
<a href="#related-links"
aria-label="navigate to Related information section"
data-ga-category="page_nav"
data-ga-action="related-links">
Related information
</a>
</li>
<li class="grants ">
<a href="#grants"
aria-label="navigate to Grants and funding section"
data-ga-category="page_nav"
data-ga-action="grants">
Grants and funding
</a>
</li>
<li class="linkout ">
<a href="#linkout"
aria-label="navigate to LinkOut - more resources section"
data-ga-category="page_nav"
data-ga-action="linkout">
LinkOut - more resources
</a>
</li>
</ul>
</div>
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
<option value="heading">Title &amp; authors</option>
<option value="abstract">Abstract</option>
<option value="conflict-of-interest">Conflict of interest statement</option>
<option value="figures">Figures</option>
<option value="similar">Similar articles</option>
<option value="citedby">Cited by</option>
<option value="references">References</option>
<option value="mesh-terms">MeSH terms</option>
<option value="substances">Substances</option>
<option value="related-links">Related information</option>
<option value="grants">Grants and funding</option>
<option value="linkout">LinkOut - more resources</option>
</select>
</nav>
</div>
</aside>
<main class="article-details" id="article-details">
<!-- "Filters applied" shows only when page is redirected from search -->
<!-- because search found one result -->
<header class="heading" id="heading">
<div class="full-view" id="full-view-heading">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="full-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="Journal of medical genetics"
tabindex="0"
aria-controls="full-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal Journal of medical genetics"
data-pinger-ignore>
J Med Genet
</button><div id="full-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal Journal of medical genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22J+Med+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22J+Med+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=J Med Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="J Med Genet">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22J+Med+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="J Med Genet">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"J Med Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"J Med Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2006 Apr;43(4):340-6.</span>
</div>
<span class="citation-doi">
doi: 10.1136/jmg.2005.036210.
</span>
<span class="secondary-date">
Epub 2005 Sep 23.
</span>
</div>
<h1 class="heading-title">
ETHE1 mutations are specific to ethylmalonic encephalopathy
</h1>
<div class="inline-authors">
<div class="authors">
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Tiranti+V&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="V Tiranti">V Tiranti</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren&#x27;s Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Briem+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Briem">E Briem</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lamantea+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Lamantea">E Lamantea</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mineri+R&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R Mineri">R Mineri</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Papaleo+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Papaleo">E Papaleo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=De+Gioia+L&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="L De Gioia">L De Gioia</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Forlani+F&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="F Forlani">F Forlani</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rinaldo+P&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="P Rinaldo">P Rinaldo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dickson+P&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="P Dickson">P Dickson</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Abu-Libdeh+B&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="B Abu-Libdeh">B Abu-Libdeh</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cindro-Heberle+L&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="L Cindro-Heberle">L Cindro-Heberle</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Owaidha+M&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Owaidha">M Owaidha</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jack+RM&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R M Jack">R M Jack</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Christensen+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Christensen">E Christensen</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Burlina+A&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Burlina">A Burlina</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zeviani+M&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Zeviani">M Zeviani</a></span>
</div>
</div>
</div>
<div class="short-article-details">
Affiliations
<button
class="more-details"
id="toggle-authors"
data-alt-text="Collapse"
aria-controls="expanded-authors"
aria-expanded="false"
data-pinger-ignore
data-fetch-url="/16183799/long-authors/"
data-id-prefix="">
<span class="title">
Expand
</span>
</button>
</div>
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
<div class="expanded-authors" id="full-view-expanded-authors">
<div class="affiliations">
<h3 class="title">
Affiliation
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren&#x27;s Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy.</li>
</ul>
</div>
</div>
</div>
<ul class="identifiers" id="full-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">16183799</strong>
</span>
</li>
<li>
<span class="identifier pmc">
<span class="id-label">
PMCID:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=PMC2563233&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2563233/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC2563233
</a>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1136/jmg.2005.036210&amp;id_type=DOI"
href="https://doi.org/10.1136/jmg.2005.036210"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1136/jmg.2005.036210
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
<div class="short-view" id="short-view-heading">
<h1 class="heading-title">
ETHE1 mutations are specific to ethylmalonic encephalopathy
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">V Tiranti</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
J Med Genet<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2006 Apr</span><span class="citation-separator">.</span>
</span>
</div>
<div class="more-article-details-section with-display-settings">
<button class="more-article-details"
id="toggle-article-details"
data-alt-text="Hide details"
ref="linksrc=toggle_article_details"
aria-controls="full-article-details"
aria-expanded="false"
data-fetch-url="/16183799/long-authors/"
data-id-prefix="">
<span class="title">Show details</span>
</button>
<div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region">
<button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog">
<span class="button-label">Display options</span>
</button>
<div class="dropdown" hidden>
<div class="title">
Display options
</div>
<div class="content">
<div class="format-container">
<span class="option-label">
Format
</span>
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="Journal of medical genetics"
tabindex="0"
aria-controls="short-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal Journal of medical genetics"
data-pinger-ignore>
J Med Genet
</button><div id="short-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal Journal of medical genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22J+Med+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22J+Med+Genet%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=J Med Genet"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="J Med Genet">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22J+Med+Genet%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="J Med Genet">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"J Med Genet"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"J Med Genet"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2006 Apr;43(4):340-6.</span>
</div>
<span class="citation-doi">
doi: 10.1136/jmg.2005.036210.
</span>
<span class="secondary-date">
Epub 2005 Sep 23.
</span>
</div>
<div class="expanded-authors" id="short-view-expanded-authors">
<div class="authors">
<h3 class="title">
Authors
</h3>
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Tiranti+V&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="V Tiranti">V Tiranti</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren&#x27;s Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Briem+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Briem">E Briem</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lamantea+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Lamantea">E Lamantea</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mineri+R&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R Mineri">R Mineri</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Papaleo+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Papaleo">E Papaleo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=De+Gioia+L&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="L De Gioia">L De Gioia</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Forlani+F&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="F Forlani">F Forlani</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rinaldo+P&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="P Rinaldo">P Rinaldo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dickson+P&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="P Dickson">P Dickson</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Abu-Libdeh+B&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="B Abu-Libdeh">B Abu-Libdeh</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cindro-Heberle+L&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="L Cindro-Heberle">L Cindro-Heberle</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Owaidha+M&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Owaidha">M Owaidha</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jack+RM&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="R M Jack">R M Jack</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Christensen+E&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="E Christensen">E Christensen</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Burlina+A&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="A Burlina">A Burlina</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zeviani+M&amp;cauthor_id=16183799"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="M Zeviani">M Zeviani</a></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliation
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren&#x27;s Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy.</li>
</ul>
</div>
</div>
<ul class="identifiers" id="short-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">16183799</strong>
</span>
</li>
<li>
<span class="identifier pmc">
<span class="id-label">
PMCID:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=PMC2563233&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2563233/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC2563233
</a>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1136/jmg.2005.036210&amp;id_type=DOI"
href="https://doi.org/10.1136/jmg.2005.036210"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1136/jmg.2005.036210
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
</div>
</header>
<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
title="Open dialog with full text links"
ref="linksrc=full_text_links">
Full text links
</button><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/16183799/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/16183799/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
title="Open dialog with more actions to take"
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region"><button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
Display options
</div><div class="content"><div class="format-container"><span class="option-label">
Format
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
<div class="abstract" id="abstract">
<h2 class="title">
Abstract
</h2>
<div class="abstract-content selected"
id="eng-abstract">
<p>
Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic acrocyanosis, and high levels of ethylmalonic acid in body fluids. To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). Frameshift, stop, splice site, and missense mutations of ETHE1 were detected in all the typical EE patients analysed. Western blot analysis of the ETHE1 protein indicated that some of the missense mutations are associated with the presence of the protein, suggesting that the corresponding wild type amino acid residues have a catalytic function. No ETHE1 mutations were identified in non-EE EMA patients. Experiments based on two dimensional blue native electrophoresis indicated that ETHE1 protein works as a supramolecular, presumably homodimeric, complex, and a three dimensional model of the protein suggests that it is likely to be a mitochondrial matrix thioesterase acting on a still unknown substrate. Finally, the 625G--&gt;A single nucleotide polymorphism in the gene encoding the short chain acyl-coenzyme A dehydrogenase (SCAD) was previously proposed as a co-factor in the aetiology of EE and other EMA syndromes. SNP analysis in our patients ruled out a pathogenic role of SCAD variants in EE, but did show a highly significant prevalence of the 625A alleles in non-EE EMA patients.
</p>
</div>
</div>
<p class="disclaimer" id="disclaimer">
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
</p>
<div class="conflict-of-interest" id="conflict-of-interest">
<h2 class="title">
Conflict of interest statement
</h2>
<div class="statement">
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">Competing interests: there are no competing interests.</p>
</div>
</div>
<div class="figures" id="figures">
<h2 class="title">
Figures
</h2>
<div class="figures-list" id="slides-container"
itemscope itemtype="http://schema.org/ImageGallery">
<figure class="figure-item "
itemscope itemtype="http://schema.org/ImageObject"
itemprop="associatedMedia"
data-slide-index="0"
data-label-slug="captionless-figure">
<a class="figure-link"
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/e893c433dd6f/mg36210.f1.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-0"
role="button"
data-image-width="482"
data-image-height="246"
data-image-alt="captionless-figure"
data-pmc-id="PMC2563233"
data-figure-id="fig1">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-0"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/ebe6dd62c8e3/mg36210.f1.gif"
alt="None" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="482">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="246">
</figure>
<figure class="figure-item "
itemscope itemtype="http://schema.org/ImageObject"
itemprop="associatedMedia"
data-slide-index="1"
data-label-slug="captionless-figure">
<a class="figure-link"
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/5dfc297f6ef7/mg36210.f2.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-1"
role="button"
data-image-width="438"
data-image-height="424"
data-image-alt="captionless-figure"
data-pmc-id="PMC2563233"
data-figure-id="fig2">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-1"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/8c6f61d47a5c/mg36210.f2.gif"
alt="None" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="438">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="424">
</figure>
<figure class="figure-item "
itemscope itemtype="http://schema.org/ImageObject"
itemprop="associatedMedia"
data-slide-index="2"
data-label-slug="captionless-figure">
<a class="figure-link"
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/7cc999b8714b/mg36210.f3.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-2"
role="button"
data-image-width="435"
data-image-height="395"
data-image-alt="captionless-figure"
data-pmc-id="PMC2563233"
data-figure-id="fig3">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-2"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/632cf856edfc/mg36210.f3.gif"
alt="None" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="435">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="395">
</figure>
<figure class="figure-item "
itemscope itemtype="http://schema.org/ImageObject"
itemprop="associatedMedia"
data-slide-index="3"
data-label-slug="captionless-figure">
<a class="figure-link"
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/7e54c84a7c17/mg36210.f4.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-3"
role="button"
data-image-width="502"
data-image-height="376"
data-image-alt="captionless-figure"
data-pmc-id="PMC2563233"
data-figure-id="fig4">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-3"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/869c/2563233/fbf1842b3ced/mg36210.f4.gif"
alt="None" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="502">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="376">
</figure>
</div>
<!-- Root element of PhotoSwipe. Must have class pswp. -->
<div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true"
data-image-gallery-uid="article-figures" aria-label="Figures Dialog">
<!-- Background of PhotoSwipe.
It's a separate element as animating opacity is faster than rgba(). -->
<div class="pswp__bg"></div>
<!-- Slides wrapper with overflow:hidden. -->
<div class="pswp__scroll-wrap">
<!-- Container that holds slides.
PhotoSwipe keeps only 3 of them in the DOM to save memory.
Don't modify these 3 pswp__item elements, data is added later on. -->
<div class="pswp__container">
<div class="pswp__item"></div>
<div class="pswp__item"></div>
<div class="pswp__item"></div>
</div>
<!-- Default (PhotoSwipeUI_Default) interface on top of sliding area. Can be changed. -->
<div class="pswp__ui pswp__ui--hidden">
<div class="pswp__top-bar">
<!-- Controls are self-explanatory. Order can be changed. -->
<div class="pswp__counter"></div>
<button class="pswp__button pswp__button--close" title="Close (Esc)"></button>
<button class="pswp__button pswp__button--share" title="Share"></button>
<button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button>
<button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>
<!-- Preloader demo http://codepen.io/dimsemenov/pen/yyBWoR -->
<!-- element will get class pswp__preloader--active when preloader is running -->
<div class="pswp__preloader">
<div class="pswp__preloader__icn">
<div class="pswp__preloader__cut">
<div class="pswp__preloader__donut"></div>
</div>
</div>
</div>
</div>
<div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap">
<div class="pswp__share-tooltip"></div>
</div>
<button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)">
</button>
<button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)">
</button>
<div class="pswp__caption">
<div class="pswp__caption__center"></div>
</div>
</div>
</div>
</div>
<div class="figure-dialog-caption">
<div class="figure-caption-link-container">
<a class="figure-caption-link" href="#">See this image and copyright information in PMC</a>
</div>
<div class="figure-caption-center"
data-expand-title="click to show full caption"
data-collapse-title="click to hide full caption">
</div>
<button class="figure-caption-toggle-btn"
aria-label="show full caption"
data-expand-text="show full caption"
data-collapse-text="hide full caption">
<!-- Dynamic text -->
</button>
</div>
</div>
<div class="similar-articles" id="similar">
<h2 class="title">
Similar articles
</h2>
<ul class="articles-list" id="similar-articles-list">
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/33034777/"
ref="article_id=33034777&amp;linksrc=similar_articles_link&amp;ordinalpos=1"
data-ga-category="similar_article"
data-ga-action="33034777"
data-ga-label="">
Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Grings M, Wajner M, Leipnitz G.</span>
<span class="docsum-authors short-authors">Grings M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Cell Mol Neurobiol. 2022 Apr;42(3):565-575. doi: 10.1007/s10571-020-00976-2. Epub 2020 Oct 9.</span>
<span class="docsum-journal-citation short-journal-citation">Cell Mol Neurobiol. 2022.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">33034777</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/20978941/"
ref="article_id=20978941&amp;linksrc=similar_articles_link&amp;ordinalpos=2"
data-ga-category="similar_article"
data-ga-action="20978941"
data-ga-label="">
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.</span>
<span class="docsum-authors short-authors">Barth M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27.</span>
<span class="docsum-journal-citation short-journal-citation">J Inherit Metab Dis. 2010.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">20978941</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/9499414/"
ref="article_id=9499414&amp;linksrc=similar_articles_link&amp;ordinalpos=3"
data-ga-category="similar_article"
data-ga-action="9499414"
data-ga-label="">
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C--&gt;T, is present at an unexpectedly high frequency in the general population, as was the case for 625G--&gt;A, together conferring susceptibility to ethylmalonic aciduria.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S.</span>
<span class="docsum-authors short-authors">Gregersen N, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619.</span>
<span class="docsum-journal-citation short-journal-citation">Hum Mol Genet. 1998.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">9499414</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/18593870/"
ref="article_id=18593870&amp;linksrc=similar_articles_link&amp;ordinalpos=4"
data-ga-category="similar_article"
data-ga-action="18593870"
data-ga-label="">
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V.</span>
<span class="docsum-authors short-authors">Mineri R, et al.</span>
<span class="docsum-journal-citation full-journal-citation">J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271.</span>
<span class="docsum-journal-citation short-journal-citation">J Med Genet. 2008.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">18593870</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/32485156/"
ref="article_id=32485156&amp;linksrc=similar_articles_link&amp;ordinalpos=5"
data-ga-category="similar_article"
data-ga-action="32485156"
data-ga-label="">
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Tao Y, Han D, Li X, Wang L, Yue L, Huang C, Lu D, Li X.</span>
<span class="docsum-authors short-authors">Tao Y, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Clin Chim Acta. 2020 Oct;509:8-17. doi: 10.1016/j.cca.2020.05.051. Epub 2020 May 30.</span>
<span class="docsum-journal-citation short-journal-citation">Clin Chim Acta. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">32485156</span></span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed&from_uid=16183799"
data-ga-category="similar_article"
data-ga-action="show_all"
>
See all similar articles
</a>
</div>
</div>
<div class="citedby-articles" id="citedby">
<h2 class="title">
Cited by
</h2>
<ul class="articles-list" id="citedby-articles-list">
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/27169360/"
ref="article_id=27169360&amp;linksrc=citedby_articles_link&amp;ordinalpos=1"
data-ga-category="cited_by"
data-ga-action="27169360"
data-ga-label="">
C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Kriegbaum MC, Jacobsen B, Füchtbauer A, Hansen GH, Christensen IJ, Rundsten CF, Persson M, Engelholm LH, Madsen AN, Di Meo I, Lund IK, Holst B, Kjaer A, Lærum OD, Füchtbauer EM, Ploug M.</span>
<span class="docsum-authors short-authors">Kriegbaum MC, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Sci Rep. 2016 May 12;6:25833. doi: 10.1038/srep25833.</span>
<span class="docsum-journal-citation short-journal-citation">Sci Rep. 2016.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">27169360</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/33034777/"
ref="article_id=33034777&amp;linksrc=citedby_articles_link&amp;ordinalpos=2"
data-ga-category="cited_by"
data-ga-action="33034777"
data-ga-label="">
Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Grings M, Wajner M, Leipnitz G.</span>
<span class="docsum-authors short-authors">Grings M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Cell Mol Neurobiol. 2022 Apr;42(3):565-575. doi: 10.1007/s10571-020-00976-2. Epub 2020 Oct 9.</span>
<span class="docsum-journal-citation short-journal-citation">Cell Mol Neurobiol. 2022.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">33034777</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/20490929/"
ref="article_id=20490929&amp;linksrc=citedby_articles_link&amp;ordinalpos=3"
data-ga-category="cited_by"
data-ga-action="20490929"
data-ga-label="">
A history of mitochondrial diseases.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Dimauro S.</span>
<span class="docsum-authors short-authors">Dimauro S.</span>
<span class="docsum-journal-citation full-journal-citation">J Inherit Metab Dis. 2011 Apr;34(2):261-76. doi: 10.1007/s10545-010-9082-x. Epub 2010 May 21.</span>
<span class="docsum-journal-citation short-journal-citation">J Inherit Metab Dis. 2011.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">20490929</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/32006269/"
ref="article_id=32006269&amp;linksrc=citedby_articles_link&amp;ordinalpos=4"
data-ga-category="cited_by"
data-ga-action="32006269"
data-ga-label="">
Emerging pharmacological tools to control hydrogen sulfide signaling in critical illness.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Marutani E, Ichinose F.</span>
<span class="docsum-authors short-authors">Marutani E, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Intensive Care Med Exp. 2020 Jan 31;8(1):5. doi: 10.1186/s40635-020-0296-4.</span>
<span class="docsum-journal-citation short-journal-citation">Intensive Care Med Exp. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">32006269</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/29625556/"
ref="article_id=29625556&amp;linksrc=citedby_articles_link&amp;ordinalpos=5"
data-ga-category="cited_by"
data-ga-action="29625556"
data-ga-label="">
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Plutino M, Chaussenot A, Rouzier C, Ait-El-Mkadem S, Fragaki K, Paquis-Flucklinger V, Bannwarth S.</span>
<span class="docsum-authors short-authors">Plutino M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">BMC Med Genet. 2018 Apr 7;19(1):57. doi: 10.1186/s12881-018-0568-y.</span>
<span class="docsum-journal-citation short-journal-citation">BMC Med Genet. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29625556</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
</div>
</div>
</li>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed_citedin&from_uid=16183799"
data-ga-category="cited_by"
data-ga-action="show_all"
>
See all "Cited by" articles
</a>
</div>
</div>
<div class="references" id="references">
<h2 class="title">
References
</h2>
<div id='top-references-list' class="references-lists-container">
<div class="refs-list">
<ol id="top-references-list-1" class="references-list">
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Burlina A, Zacchello F, DionisiVici C, Bertini E, Sabetta G, Bennet M J, Hale D E, SchmidtSommerfeld E, Rinaldo P. New clinical phenotype of branchedchain acylCoA oxidation defect. Lancet 19911415221523.
-
<a
class="reference-link"
href="/1683940/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="1683940"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Grosso S, Balestri P, Mostardini R, Federico A, De Stefano N. Brain mitochondrial impairment in ethylmalonic encephalopathy. J Neurol 2004251755756.
-
<a
class="reference-link"
href="/15311356/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="15311356"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, GarciaSilva M T, Vollmer B, Rinaldo P, Hahn S H, Leonard J, Rahman S, DionisiVici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 200474239252.
-
<a
class="reference-link"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC1181922/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="PMC1181922"
>
PMC
</a>
-
<a
class="reference-link"
href="/14732903/"
ref="linksrc=references_link&amp;ordinalpos=2"
data-ga-category="reference"
data-ga-action="14732903"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
GarciaSilva M T, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 199717165170.
-
<a
class="reference-link"
href="/9367300/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="9367300"
>
PubMed
</a>
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Nowaczyk M J, Lehotay D C, Platt B A, Fisher L, Tan R, Phillips H, Clarke J T. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism 199847836839.
-
<a
class="reference-link"
href="/9667231/"
ref="linksrc=references_link&amp;ordinalpos=1"
data-ga-category="reference"
data-ga-action="9667231"
>
PubMed
</a>
</li>
</ol>
</li>
</ol>
<div class="actions-bar">
<button
class="show-all"
ref="linksrc=show_all_references_link"
aria-controls="top-references-list-1"
data-next-page-url="/16183799/references/"
data-ga-category="reference"
data-ga-action="show_more"
>
Show all 26 references
</button>
</div>
</div>
</div>
</div>
<div id="mesh-terms" class="mesh-terms keywords-section">
<h2 class="title">
MeSH terms
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Alleles"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-0"
aria-expanded="false"
data-pinger-ignore>
Alleles
</button><div id="keyword-actions-mesh-terms-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Alleles"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Alleles%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Alleles%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Alleles&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Alleles">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Alleles"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Alleles">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Alleles&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Alleles&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Blotting, Western"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-1"
aria-expanded="false"
data-pinger-ignore>
Blotting, Western
</button><div id="keyword-actions-mesh-terms-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Blotting, Western"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Blotting%2C+Western%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Blotting%2C+Western%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Blotting, Western&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Blotting, Western">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Blotting%2C+Western"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Blotting, Western">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Blotting, Western&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Blotting, Western&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Brain Diseases, Metabolic / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-2"
aria-expanded="false"
data-pinger-ignore>
Brain Diseases, Metabolic / diagnosis
</button><div id="keyword-actions-mesh-terms-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Brain Diseases, Metabolic / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Brain+Diseases%2C+Metabolic%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Brain+Diseases%2C+Metabolic%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Brain Diseases, Metabolic/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Brain Diseases, Metabolic / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Brain+Diseases%2C+Metabolic"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Brain Diseases, Metabolic / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Brain Diseases, Metabolic/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Brain Diseases, Metabolic/diagnosis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Brain Diseases, Metabolic / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-3"
aria-expanded="false"
data-pinger-ignore>
Brain Diseases, Metabolic / genetics*
</button><div id="keyword-actions-mesh-terms-major-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Brain Diseases, Metabolic / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Brain+Diseases%2C+Metabolic%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Brain+Diseases%2C+Metabolic%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Brain Diseases, Metabolic/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Brain Diseases, Metabolic / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Brain+Diseases%2C+Metabolic"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Brain Diseases, Metabolic / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Brain Diseases, Metabolic/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Brain Diseases, Metabolic/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Butyryl-CoA Dehydrogenase / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-4"
aria-expanded="false"
data-pinger-ignore>
Butyryl-CoA Dehydrogenase / genetics
</button><div id="keyword-actions-mesh-terms-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Butyryl-CoA Dehydrogenase / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Butyryl-CoA+Dehydrogenase%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Butyryl-CoA+Dehydrogenase%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Butyryl-CoA Dehydrogenase/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Butyryl-CoA Dehydrogenase / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Butyryl-CoA+Dehydrogenase"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Butyryl-CoA Dehydrogenase / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Butyryl-CoA Dehydrogenase/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Butyryl-CoA Dehydrogenase/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Butyryl-CoA Dehydrogenase / physiology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-5"
aria-expanded="false"
data-pinger-ignore>
Butyryl-CoA Dehydrogenase / physiology
</button><div id="keyword-actions-mesh-terms-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Butyryl-CoA Dehydrogenase / physiology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Butyryl-CoA+Dehydrogenase%2Fphysiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Butyryl-CoA+Dehydrogenase%2Fphysiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Butyryl-CoA Dehydrogenase/physiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Butyryl-CoA Dehydrogenase / physiology">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Butyryl-CoA+Dehydrogenase"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Butyryl-CoA Dehydrogenase / physiology">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Butyryl-CoA Dehydrogenase/physiology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Butyryl-CoA Dehydrogenase/physiology&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword DNA Mutational Analysis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-6"
aria-expanded="false"
data-pinger-ignore>
DNA Mutational Analysis
</button><div id="keyword-actions-mesh-terms-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword DNA Mutational Analysis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22DNA+Mutational+Analysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22DNA+Mutational+Analysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;DNA Mutational Analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="DNA Mutational Analysis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=DNA+Mutational+Analysis"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="DNA Mutational Analysis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;DNA Mutational Analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;DNA Mutational Analysis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Electrophoresis, Gel, Two-Dimensional"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-7"
aria-expanded="false"
data-pinger-ignore>
Electrophoresis, Gel, Two-Dimensional
</button><div id="keyword-actions-mesh-terms-7"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Electrophoresis, Gel, Two-Dimensional"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Electrophoresis%2C+Gel%2C+Two-Dimensional%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Electrophoresis%2C+Gel%2C+Two-Dimensional%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Electrophoresis, Gel, Two-Dimensional&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Electrophoresis, Gel, Two-Dimensional">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Electrophoresis%2C+Gel%2C+Two-Dimensional"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Electrophoresis, Gel, Two-Dimensional">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Electrophoresis, Gel, Two-Dimensional&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Electrophoresis, Gel, Two-Dimensional&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Humans"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-8"
aria-expanded="false"
data-pinger-ignore>
Humans
</button><div id="keyword-actions-mesh-terms-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Humans">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Humans">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Humans&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Malonates / analysis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-9"
aria-expanded="false"
data-pinger-ignore>
Malonates / analysis
</button><div id="keyword-actions-mesh-terms-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Malonates / analysis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Malonates%2Fanalysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Malonates%2Fanalysis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Malonates/analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Malonates / analysis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Malonates"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Malonates / analysis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Malonates/analysis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Malonates/analysis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mitochondrial Proteins / chemistry"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-10"
aria-expanded="false"
data-pinger-ignore>
Mitochondrial Proteins / chemistry
</button><div id="keyword-actions-mesh-terms-10"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mitochondrial Proteins / chemistry"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Mitochondrial+Proteins%2Fchemistry%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mitochondrial+Proteins%2Fchemistry%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mitochondrial Proteins/chemistry&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mitochondrial Proteins / chemistry">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mitochondrial+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mitochondrial Proteins / chemistry">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mitochondrial Proteins/chemistry&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mitochondrial Proteins/chemistry&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mitochondrial Proteins / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-11"
aria-expanded="false"
data-pinger-ignore>
Mitochondrial Proteins / genetics*
</button><div id="keyword-actions-mesh-terms-major-11"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mitochondrial Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Mitochondrial+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mitochondrial+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mitochondrial Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mitochondrial Proteins / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mitochondrial+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mitochondrial Proteins / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mitochondrial Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mitochondrial Proteins/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mitochondrial Proteins / metabolism"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-12"
aria-expanded="false"
data-pinger-ignore>
Mitochondrial Proteins / metabolism
</button><div id="keyword-actions-mesh-terms-12"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mitochondrial Proteins / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Mitochondrial+Proteins%2Fmetabolism%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mitochondrial+Proteins%2Fmetabolism%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mitochondrial Proteins/metabolism&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mitochondrial Proteins / metabolism">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mitochondrial+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mitochondrial Proteins / metabolism">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mitochondrial Proteins/metabolism&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mitochondrial Proteins/metabolism&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Models, Molecular"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-13"
aria-expanded="false"
data-pinger-ignore>
Models, Molecular
</button><div id="keyword-actions-mesh-terms-13"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Models, Molecular"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Models%2C+Molecular%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Models%2C+Molecular%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Models, Molecular&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Models, Molecular">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Models%2C+Molecular"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Models, Molecular">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Models, Molecular&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Models, Molecular&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Mutation*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-14"
aria-expanded="false"
data-pinger-ignore>
Mutation*
</button><div id="keyword-actions-mesh-terms-major-14"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mutation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Mutation%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mutation%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutation&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Mutation*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Mutation*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mutation&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mutation&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Nucleocytoplasmic Transport Proteins / chemistry"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-15"
aria-expanded="false"
data-pinger-ignore>
Nucleocytoplasmic Transport Proteins / chemistry
</button><div id="keyword-actions-mesh-terms-15"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Nucleocytoplasmic Transport Proteins / chemistry"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fchemistry%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fchemistry%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Nucleocytoplasmic Transport Proteins/chemistry&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Nucleocytoplasmic Transport Proteins / chemistry">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Nucleocytoplasmic+Transport+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Nucleocytoplasmic Transport Proteins / chemistry">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Nucleocytoplasmic Transport Proteins/chemistry&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Nucleocytoplasmic Transport Proteins/chemistry&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Nucleocytoplasmic Transport Proteins / genetics*"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-16"
aria-expanded="false"
data-pinger-ignore>
Nucleocytoplasmic Transport Proteins / genetics*
</button><div id="keyword-actions-mesh-terms-major-16"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Nucleocytoplasmic Transport Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Nucleocytoplasmic Transport Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Nucleocytoplasmic Transport Proteins / genetics*">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Nucleocytoplasmic+Transport+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Nucleocytoplasmic Transport Proteins / genetics*">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Nucleocytoplasmic Transport Proteins/genetics&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Nucleocytoplasmic Transport Proteins/genetics&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Nucleocytoplasmic Transport Proteins / metabolism"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-17"
aria-expanded="false"
data-pinger-ignore>
Nucleocytoplasmic Transport Proteins / metabolism
</button><div id="keyword-actions-mesh-terms-17"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Nucleocytoplasmic Transport Proteins / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fmetabolism%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Nucleocytoplasmic+Transport+Proteins%2Fmetabolism%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Nucleocytoplasmic Transport Proteins/metabolism&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Nucleocytoplasmic Transport Proteins / metabolism">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Nucleocytoplasmic+Transport+Proteins"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Nucleocytoplasmic Transport Proteins / metabolism">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Nucleocytoplasmic Transport Proteins/metabolism&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Nucleocytoplasmic Transport Proteins/metabolism&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Phylogeny"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-18"
aria-expanded="false"
data-pinger-ignore>
Phylogeny
</button><div id="keyword-actions-mesh-terms-18"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Phylogeny"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Phylogeny%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Phylogeny%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Phylogeny&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Phylogeny">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Phylogeny"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Phylogeny">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Phylogeny&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Phylogeny&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Polymorphism, Single Nucleotide"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-19"
aria-expanded="false"
data-pinger-ignore>
Polymorphism, Single Nucleotide
</button><div id="keyword-actions-mesh-terms-19"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Polymorphism, Single Nucleotide"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Polymorphism%2C+Single+Nucleotide%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Polymorphism%2C+Single+Nucleotide%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Polymorphism, Single Nucleotide&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Polymorphism, Single Nucleotide">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Polymorphism%2C+Single+Nucleotide"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Polymorphism, Single Nucleotide">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Polymorphism, Single Nucleotide&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Polymorphism, Single Nucleotide&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="substances" class="substances keywords-section">
<h2 class="title">
Substances
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword ETHE1 protein, human"
tabindex="0"
aria-controls="keyword-actions-substances-0"
aria-expanded="false"
data-pinger-ignore>
ETHE1 protein, human
</button><div id="keyword-actions-substances-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword ETHE1 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22ETHE1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22ETHE1+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;ETHE1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="ETHE1 protein, human">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22ETHE1+protein%2C+human%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="ETHE1 protein, human">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;ETHE1 protein, human&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;ETHE1 protein, human&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Malonates"
tabindex="0"
aria-controls="keyword-actions-substances-1"
aria-expanded="false"
data-pinger-ignore>
Malonates
</button><div id="keyword-actions-substances-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Malonates"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Malonates%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Malonates%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Malonates&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Malonates">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Malonates%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Malonates">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Malonates&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Malonates&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Mitochondrial Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-2"
aria-expanded="false"
data-pinger-ignore>
Mitochondrial Proteins
</button><div id="keyword-actions-substances-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Mitochondrial Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Mitochondrial+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Mitochondrial+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Mitochondrial Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Mitochondrial Proteins">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Mitochondrial+Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Mitochondrial Proteins">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Mitochondrial Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Mitochondrial Proteins&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Nucleocytoplasmic Transport Proteins"
tabindex="0"
aria-controls="keyword-actions-substances-3"
aria-expanded="false"
data-pinger-ignore>
Nucleocytoplasmic Transport Proteins
</button><div id="keyword-actions-substances-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Nucleocytoplasmic Transport Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Nucleocytoplasmic+Transport+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Nucleocytoplasmic+Transport+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Nucleocytoplasmic Transport Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Nucleocytoplasmic Transport Proteins">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Nucleocytoplasmic+Transport+Proteins%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Nucleocytoplasmic Transport Proteins">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Nucleocytoplasmic Transport Proteins&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Nucleocytoplasmic Transport Proteins&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword ethylmalonic acid"
tabindex="0"
aria-controls="keyword-actions-substances-4"
aria-expanded="false"
data-pinger-ignore>
ethylmalonic acid
</button><div id="keyword-actions-substances-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword ethylmalonic acid"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22ethylmalonic+acid%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22ethylmalonic+acid%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;ethylmalonic acid&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="ethylmalonic acid">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22ethylmalonic+acid%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="ethylmalonic acid">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;ethylmalonic acid&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;ethylmalonic acid&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Butyryl-CoA Dehydrogenase"
tabindex="0"
aria-controls="keyword-actions-substances-5"
aria-expanded="false"
data-pinger-ignore>
Butyryl-CoA Dehydrogenase
</button><div id="keyword-actions-substances-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Butyryl-CoA Dehydrogenase"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Butyryl-CoA+Dehydrogenase%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Butyryl-CoA+Dehydrogenase%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Butyryl-CoA Dehydrogenase&quot;[nm]"
data-ga-category="search"
data-ga-action="substance"
data-ga-label="Butyryl-CoA Dehydrogenase">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Butyryl-CoA+Dehydrogenase%22"
data-ga-category="search_mesh"
data-ga-action="substance_link"
data-ga-label="Butyryl-CoA Dehydrogenase">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Butyryl-CoA Dehydrogenase&quot;[nm]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Butyryl-CoA Dehydrogenase&quot;[nm]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=1">
Cited in Books
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=2">
ClinVar
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=3">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=4">
Gene (GeneRIF)
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=5">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=6">
MedGen (Bookshelf cited)
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=7">
Protein (RefSeq)
</a></li><li><a title="Related PubChem Compound" href="https://www.ncbi.nlm.nih.gov/pccompound?linkname=pubmed_pccompound&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=8">
PubChem Compound
</a></li><li><a title="Related PubChem Compound via MeSH" href="https://www.ncbi.nlm.nih.gov/pccompound?linkname=pubmed_pccompound_mesh&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=9">
PubChem Compound (MeSH Keyword)
</a></li><li><a title="Related PubChem Substance" href="https://www.ncbi.nlm.nih.gov/pcsubstance?linkname=pubmed_pcsubstance&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=10">
PubChem Substance
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=16183799"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=16183799&ordinalpos=1&linkpos=11">
SNP
</a></li></ul>
</div>
<div id="grants" class="grants">
<h2 class="title">
Grants and funding
</h2>
<div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a
title="All articles for grant GGP030039/TI_/Telethon/Italy"
href="/?term=GGP030039%2FTI_%2FTelethon%2FItaly%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=grant_link"
data-ga-category="search"
data-ga-action="grant"
data-ga-label="GGP030039"
>
GGP030039/TI_/Telethon/Italy
</a></li></ul></div>
</div>
<div id="linkout" class="linkout">
<h2 class="title">
LinkOut - more resources
</h2>
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
href="https://europepmc.org/abstract/MED/16183799"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=6082&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Europe PubMed Central"
>
Europe PubMed Central
</a></li><li><a
href="https://jmg.bmj.com/lookup/pmidlookup?view=long&amp;pmid=16183799"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3051&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="HighWire"
>
HighWire
</a></li><li><a
href="http://ovidsp.ovid.com/ovidweb.cgi?T=JS&amp;PAGE=linkout&amp;SEARCH=16183799.ui"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3682&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Ovid Technologies, Inc."
>
Ovid Technologies, Inc.
</a></li><li><a
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/16183799/"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3494&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="PubMed Central"
>
PubMed Central
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
href="http://babysfirsttest.org/newborn-screening/conditions/ethylmalonic-encephalopathy"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=6412&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Medical"
data-ga-label="Genetic Alliance"
>
Genetic Alliance
</a></li><li><a
href="https://medlineplus.gov/genetics/gene/ethe1"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3162&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Medical"
data-ga-label="MedlinePlus Health Information"
>
MedlinePlus Health Information
</a></li></ul></li><li><h3 class="linkout-category">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
href="https://metacyc.org/gene?orgid=META&amp;id=HS12604"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=4616&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Molecular Biology Databases"
data-ga-label="BioCyc"
>
BioCyc
</a></li></ul></li><li><h3 class="linkout-category">Research Materials</h3><ul class="linkout-category-links"><li><a
href="https://antibodies.cancer.gov/detail/CPTC-MUC1-1"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=8467&uid=16183799&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=2985087R"
data-ga-category="link_out"
data-ga-action="Research Materials"
data-ga-label="NCI CPTC Antibody Characterization Program"
>
NCI CPTC Antibody Characterization Program
</a></li></ul></li></ul>
</div>
</main>
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
<strong class="title">Full text links</strong>
<button class="close-overlay" tabindex="3">[x]</button>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://jmg.bmj.com/lookup/pmidlookup?view=long&amp;pmid=16183799"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3051&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=16183799&amp;db=pubmed&amp;nlmid=2985087R"
title="See full text options at HighWire"
tabindex="1"
data-ga-category="full_text"
data-ga-action="HighWire"
data-ga-label="16183799"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--highwire.stanford.edu-icons-externalservices-pubmed-custom-bmjjournals_final.gif" alt="HighWire full text link"><span class="text">
HighWire
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/16183799/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=16183799&amp;db=pubmed&amp;nlmid=2985087R"
title="Free full text at PubMed Central"
tabindex="2"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="16183799"
><span class="text">
Free PMC article
</span></a>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="Citation Dialog">
<div class="dialog citation-dialog">
<button class="close-overlay" tabindex="1">[x]</button>
<div class="title">Cite</div>
<div class="citation-text-block">
<div class="citation-text"></div>
<div class="citation-actions">
<button
class="copy-button dialog-focus"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="copy"
tabindex="2">
Copy
</button>
<form method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="5UDRqnNfEyFSvC11yiwHHIWMjqjUFNmcmHnW3dgBe9smp37RbB9JbQsqRu16yoUw">
<button type="submit"
class="export-button"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="download"
title="Download a file for external citation management software"
tabindex="3">
<span class="download-title">Download .nbib</span>
<span class="download-title-mobile">.nbib</span>
</button>
</form>
<div class="citation-style-selector-wrapper">
<label class="selector-label">Format:</label>
<select aria-label="Format" class="citation-style-selector" tabindex="4">
<option data-style-url-name="ama"
value="AMA"
>
AMA
</option>
<option data-style-url-name="apa"
value="APA"
>
APA
</option>
<option data-style-url-name="mla"
value="MLA"
>
MLA
</option>
<option data-style-url-name="nlm"
value="NLM"
selected="selected">
NLM
</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
<div id="more-actions-dialog" class="dialog more-actions-dialog">
<strong class="title">Send To</strong>
<ul class="more-actions-links">
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F%23open-bibliography-panel">My Bibliography</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F%23open-collections-panel">Collections</a></li>
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
</ul>
<button class="close-overlay">[x]</button>
</div>
</div>
</div>
<div id="ncbi-footer">
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
<div class="usa-grid">
<p class="literature-footer-text">NCBI Literature Resources</p>
<p class="literature-footer-text">
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
</p>
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
</div>
</div>
<!-- ========== BEGIN FOOTER ========== -->
<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 width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
<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"/>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" 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 data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" 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
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" 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 id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><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"/></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 width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector" 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="1.2" 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="38" height="38" 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 version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
<style type="text/css">
.st10 {
fill: #FFFFFF;
}
.st110 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
</style>
<title>SM-Facebook</title>
<g>
<g>
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
v67.5H135v-67.5h21.7L159,99.1z"></path>
</g>
</g>
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
</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 version="1.1" xmlns="http://www.w3.org/2000/svg"
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
style="enable-background:new 0 0 249 249;" xml:space="preserve">
<title>SM-Youtube</title>
<style type="text/css">
.st4 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
.st5 {
fill: #FFFFFF;
}
</style>
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
<g transform="translate(0,-952.36218)">
<path class="st5"
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
</g>
</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>
</footer>
<!-- ========== END FOOTER ========== -->
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
<script type="text/javascript">
var nwds_version = "1.2.3";
var meta_nwds_ver = document.createElement('meta');
meta_nwds_ver.name = 'ncbi_nwds_ver';
meta_nwds_ver.content = nwds_version;
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
var meta_nwds = document.createElement('meta');
meta_nwds.name = 'ncbi_nwds';
meta_nwds.content = 'yes';
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
var alertsUrl = "/core/alerts/alerts.js";
if (typeof ncbiBaseUrl !== 'undefined') {
alertsUrl = ncbiBaseUrl + alertsUrl;
}
</script>
</div>
<!-- jQuery with plugins -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
<!-- Project base scripts -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
<script>
ncbi.awesome.basePage.init({
userInfo: {
isLoggedIn: false,
username: "",
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F16183799%2F",
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/16183799/"
},
baseUrl: 'https://www.ncbi.nlm.nih.gov',
noSessionCookieName: "pm-ns",
searchIdCookieName: "pm-sid",
adjNavSearchIdCookieName: "pm-adjnav-sid",
searchFormSubmittedCookieName: "pm-sfs",
isOnSearchPageCookieName: "pm-iosp",
backToSearchCookieName: "pm-btsl",
clinicalSeeAllCookieName: "pm-csa",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
userShareRequestFailed: "",
noSharedSettings: "myncbi_no_shared_settings",
noSharedAccount: "myncbi_no_shared_account"
});
</script>
<script type="module">
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
galert(['body > *:last-child']);
dismissableNCBIAlert();
}).fail(function() {
});
</script>
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
<script>
ncbi.awesome.articlePage.init({
baseSuggestionsUrl: "/suggestions/",
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
clipboardAPIRoot: "/ajax/clipboard/",
clipboardNextPageUrl: "/clipboard-next-page/",
searchIdCookieName: "pm-sid",
searchFormSubmittedCookieName: "pm-sfs",
backToSearchCookieName: "pm-btsl",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
longTermPrefix: "longquery",
adjNavURLPath: "/16183799/adj-nav/",
adjNavSearchIdCookieName: "pm-adjnav-sid",
articlePageUrl: "/16183799/",
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
termHighlightColor: "",
highlightedTokens: "",
citeFormatPreferenceCookieName: "pm-cf"
});
</script>
</body>
</html>