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598 lines
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118 KiB
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pmc" selected="selected" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="nuccore">Nucleotide</option><option value="books">Books</option><option value="gene" class="last">Gene</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search PMC. Use up and down arrows to choose an item from the autocomplete." value=""Mol Genet Metab"[jour]" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'pmc-search-autocomplete',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=pmc&qk=85854" id="SaveSearch">Create alert</a></li><li><a href="/pmc/journals/">Journal List</a></li><li><a href="/pmc/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3825">Help</a></li></ul></div>
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<div><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailReport" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailFormat" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailCount" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailStart" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSort" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Email" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSubject" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailText" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailQueryKey" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailHID" sid="1" type="hidden" value="14ULBR7m-q7Dtriaj5vkJSBR3cigwtYWefnIx6hctk" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.QueryDescription" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Key" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Answer" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Holding" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingFft" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingNdiSet" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.OToolValue" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.SubjectList" sid="1" type="hidden" value="" /></div><!-- hidden inputs -->
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</div>
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<div id="faceted_search" class="col two_col">
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<h2 class="offscreen_noflow">Result Filters</h2>
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<div class="facet_cont" data-db="pmc" data-default_grps="fg_types,fg_text_availability,fg_pubdate,fg_funding" data-sd="db:'pmc',op:'search',term:'%22Mol%20Genet%20Metab%22%5Bjour%5D',qk:'85854',linkname:'',idsfromresult:'',extra:''"><ul class="facet" data-filter_id="types" id="_types"><li class="filter_grp "><div class="clearfix"><h3>Article attributes</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="associateddata">Associated Data</a></li><li class="fil_val"><a href="#" data-value_id="manuscripts">Author manuscripts</a></li><li class="fil_val"><a href="#" data-value_id="digitazed">Digitized back issues</a></li><li class="fil_val"><a href="#" data-value_id="medline">MEDLINE journals</a></li><li class="fil_val"><a href="#" data-value_id="openaccess">Open access</a></li><li class="fil_val"><a href="#" data-value_id="preprint">Preprints</a></li><li class="fil_val"><a href="#" data-value_id="retracted">Retracted</a></li></ul></li></ul><ul class="facet" data-filter_id="text_availability" id="_text_availability"><li class="filter_grp "><div class="clearfix"><h3>Text availability</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="embargoed">Include embargoed articles</a></li></ul></li></ul><ul class="facet" data-filter_id="pubdate" data-ds="yes" id="_pubdate"><li class="filter_grp"><div class="clearfix"><h3>Publication date</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="y_1">1 year</a></li><li class="fil_val"><a href="#" data-value_id="y_5">5 years</a></li><li class="fil_val"><a href="#" data-value_id="y_10">10 years</a></li><li class="daterange"><a id="facet_date_rangepubdate" href="#facet_date_range_divpubdate" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
|
||
Custom range...</a></li><div id="facet_date_range_divpubdate" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom date range</h4><div><label class="offscreen_noflow" for="facet_date_st_yearpubdate">Start Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_st_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_monthpubdate">Start Month</label><input type="text" size="2" placeholder="MM" id="facet_date_st_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_daypubdate">Start Day</label><input type="text" size="2" placeholder="DD" id="facet_date_st_daypubdate" value="" /><span>to</span><label class="offscreen_noflow" for="facet_date_end_yearpubdate">End Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_end_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_monthpubdate">End Month</label><input type="text" size="2" placeholder="MM" id="facet_date_end_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_daypubdate">End Day</label><input type="text" size="2" placeholder="DD" id="facet_date_end_daypubdate" value="" /></div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_date_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_date_range_applypubdate">Apply</button><button class="jig-ncbibutton secondary-action btn_date_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_date_range_clearpubdate">Clear</button></div></div></ul></li></ul><ul class="facet" data-filter_id="funding" id="_funding"><li class="filter_grp "><div class="clearfix"><h3>Research Funder</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="funder_nih">NIH</a></li><li class="fil_val"><a href="#" data-value_id="funder_ahrq">AHRQ</a></li><li class="fil_val"><a href="#" data-value_id="funder_acl">ACL</a></li><li class="fil_val"><a href="#" data-value_id="funder_aspr">ASPR</a></li><li class="fil_val"><a href="#" data-value_id="funder_cdc">CDC</a></li><li class="fil_val"><a href="#" data-value_id="funder_dhs">DHS</a></li><li class="fil_val"><a href="#" data-value_id="funder_epa">EPA</a></li><li class="fil_val"><a href="#" data-value_id="funder_fda">FDA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nasa">NASA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nist">NIST</a></li><li class="fil_val"><a href="#" data-value_id="funder_va">VA</a></li><li class="more"><a href="#funding_more" data-value_id="fetch_more" data-jigconfig=" hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '300px'">Customize ...</a><div style="display:none;" id="funding_more"></div></li></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_types" /><label for="fg_types">Article attributes</label></li><li><input type="checkbox" id="fg_text_availability" /><label for="fg_text_availability">Text availability</label></li><li><input type="checkbox" id="fg_pubdate" data-always_show="yes" /><label for="fg_pubdate">Publication date</label></li><li><input type="checkbox" id="fg_funding" data-always_show="yes" /><label for="fg_funding">Research Funder</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.PMC.Facets.BMFacets" sid="1" type="hidden" value="" /></div>
|
||
</div>
|
||
<div id="maincontent" class="col seven_col">
|
||
<div class="content">
|
||
<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="1" value="DocSum" format="" id="DocSum" checked="true" /><label for="DocSum">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="2" value="DocSum" format="text" id="DocSumtext" /><label for="DocSumtext">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="3" value="MEDLINE" format="text" id="MEDLINEtext" /><label for="MEDLINEtext">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="4" value="uilist" format="text" id="uilisttext" /><label for="uilisttext">PMCID List</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="1" value="none" id="none" checked="true" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="2" value="PubDate" id="PubDate" /><label for="PubDate">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="3" value="Journal" id="Journal" /><label for="Journal">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="4" value="PmcLiveDate" id="PmcLiveDate" /><label for="PmcLiveDate">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
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<div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11808525" class="ui-helper-hidden-accessible">Select item 11808525</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox11808525" value="11808525" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=11808525&link_uid=11808525&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11808525/" class="view">Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms</a></div><div class="supp"><div class="desc">Carol L. Greene, Sofia Saenz-Ayala, Erin T. Strovel, Francis Rossignol, Carlos R. Ferreira, Nenad Blau</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Feb 10.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2025 Jan; 144(1): 109001. <span class="">Published online 2024 Dec 13. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2024.109001</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11808525</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=11808525&link_uid=11808525&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11808525/">Article</a><a ref="ordinalpos=1&ncbi_uid=11808525&link_uid=11808525&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11808525/pdf/nihms-2050528.pdf">PDF–247K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11251693" class="ui-helper-hidden-accessible">Select item 11251693</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11251693" value="11251693" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11251693&link_uid=11251693&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11251693/" class="view">Clinical and Biochemical Footprints of Congenital Disorders of Glycosylation: Proposed Nosology</a></div><div class="supp"><div class="desc">Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jul 16.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2024 May; 142(1): 108476. <span class="">Published online 2024 Apr 10. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2024.108476</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11251693</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11251693&link_uid=11251693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11251693/">Article</a><a ref="ordinalpos=2&ncbi_uid=11251693&link_uid=11251693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11251693/pdf/nihms-2002387.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10951942" class="ui-helper-hidden-accessible">Select item 10951942</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox10951942" value="10951942" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=10951942&link_uid=10951942&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10951942/" class="view">A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency</a></div><div class="supp"><div class="desc">Vi Pham, Livia Sertori Finoti, Margaret M. Cassidy, Jean Ann Maguire, Alyssa L. Gagne, Elisa A. Waxman, Deborah L. French, Kaitlyn King, Zitao Zhou, Michael H. Gelb, Parith Wongkittichote, Xinying Hong, Lars Schlotawa, Beverly L. Davidson, Rebecca C. Ahrens-Nicklas</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Feb 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2024 Feb; 141(2): 108116. <span class="">Published online 2023 Dec 21. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.108116</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10951942</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=10951942&link_uid=10951942&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10951942/">Article</a><a ref="ordinalpos=3&ncbi_uid=10951942&link_uid=10951942&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10951942/pdf/nihms-1955518.pdf">PDF–2.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11752444" class="ui-helper-hidden-accessible">Select item 11752444</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox11752444" value="11752444" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=11752444&link_uid=11752444&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11752444/" class="view">Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities</a></div><div class="supp"><div class="desc">Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R. Ferreira</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Jan 22.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Dec; 140(4): 107735. <span class="">Published online 2023 Nov 13. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107735</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11752444</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=11752444&link_uid=11752444&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11752444/">Article</a><a ref="ordinalpos=4&ncbi_uid=11752444&link_uid=11752444&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11752444/pdf/nihms-2044636.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10872922" class="ui-helper-hidden-accessible">Select item 10872922</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox10872922" value="10872922" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=10872922&link_uid=10872922&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10872922/" class="view">Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel</a></div><div class="supp"><div class="desc">Jennifer L. Goldstein, Jennifer McGlaughon, Dona Kanavy, Shelly Goomber, Yinghong Pan, Brett Deml, Taraka Donti, Liz Kearns, Bryce A. Seifert, Miriam Schachter, Rachel G. Son, Courtney Thaxton, Rupa Udani, Deeksha Bali, Heather Baudet, Michele Caggana, Christina Hung, Lianna Kyriakopoulou, Lynne Rosenblum, Robert Steiner, Filippo Pinto e Vairo, Yang Wang, Michael Watson, Raquel Fernandez, Meredith Weaver, Lorne Clarke, Catherine Rehder</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Oct 26.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Sep-Oct; 140(1-2): 107715. <span class="">Published online 2023 Oct 26. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107715</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10872922</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=10872922&link_uid=10872922&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10872922/">Article</a><a ref="ordinalpos=5&ncbi_uid=10872922&link_uid=10872922&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10872922/pdf/nihms-1943655.pdf">PDF–434K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11162249" class="ui-helper-hidden-accessible">Select item 11162249</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox11162249" value="11162249" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=11162249&link_uid=11162249&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11162249/" class="view">Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: still many lessons to learn</a></div><div class="supp"><div class="desc">Kevin E. Glinton, Charles G. Minard, Ning Liu, Qin Sun, Sarah H. Elsea, Lindsay C. Burrage, Sandesh C.S. Nagamani</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Nov 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Nov; 140(3): 107699. <span class="">Published online 2023 Sep 11. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107699</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11162249</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=11162249&link_uid=11162249&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11162249/">Article</a><a ref="ordinalpos=6&ncbi_uid=11162249&link_uid=11162249&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11162249/pdf/nihms-1996530.pdf">PDF–624K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10866211" class="ui-helper-hidden-accessible">Select item 10866211</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox10866211" value="10866211" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=10866211&link_uid=10866211&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10866211/" class="view">Health-Related Quality of Life in a Systematically Assessed Cohort of Children and Adults with Urea Cycle Disorders</a></div><div class="supp"><div class="desc">Chaya N. Murali, John R. Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N. Wilkening, Ron D. Hays, Uta Lichter-Konecki, Members of the Urea Cycle Disorders Consortium, Lindsay C. Burrage, Sandesh C.S. Nagamani</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Nov 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Nov; 140(3): 107696. <span class="">Published online 2023 Sep 8. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107696</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10866211</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=10866211&link_uid=10866211&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10866211/">Article</a><a ref="ordinalpos=7&ncbi_uid=10866211&link_uid=10866211&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10866211/pdf/nihms-1930321.pdf">PDF–384K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10841861" class="ui-helper-hidden-accessible">Select item 10841861</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox10841861" value="10841861" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=10841861&link_uid=10841861&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10841861/" class="view">Newborn Screening for the Full Set of Mucopolysaccharidoses in Dried Blood Spots Based on First-tier Enzymatic Assay Followed by Second-Tier Analysis of Glycosaminoglycans</a></div><div class="supp"><div class="desc">Zackary Herbst, Xinying Hong, Martin Sadilek, Maria Fuller, Michael H. Gelb</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Nov 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Nov; 140(3): 107698. <span class="">Published online 2023 Sep 7. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107698</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10841861</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=10841861&link_uid=10841861&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10841861/">Article</a><a ref="ordinalpos=8&ncbi_uid=10841861&link_uid=10841861&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10841861/pdf/nihms-1936852.pdf">PDF–61K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11747985" class="ui-helper-hidden-accessible">Select item 11747985</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox11747985" value="11747985" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=11747985&link_uid=11747985&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11747985/" class="view">Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases</a></div><div class="supp"><div class="desc">Anke Schumann, Ulla T. Schultheiss, Carlos R. Ferreira, Nenad Blau</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Jan 21.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Nov; 140(3): 107683. <span class="">Published online 2023 Aug 12. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107683</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11747985</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=11747985&link_uid=11747985&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11747985/">Article</a><a ref="ordinalpos=9&ncbi_uid=11747985&link_uid=11747985&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11747985/pdf/nihms-2044634.pdf">PDF–997K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10748792" class="ui-helper-hidden-accessible">Select item 10748792</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox10748792" value="10748792" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=10748792&link_uid=10748792&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10748792/" class="view">Endogenous, Non-Reducing End Glycosaminoglycan Biomarkers are Superior to Internal Disaccharide Glycosaminoglycan Biomarkers for Newborn Screening of Mucopolysaccharidoses and GM1 Gangliosidosis</a></div><div class="supp"><div class="desc">Zackary M. Herbst, Xinying Hong, Leslie Urdaneta, Terri Klein, Christine Waggoner, Hsuan-Chieh Liao, Francyne Kubaski, Roberto Giugliani, Maria Fuller, Michael H. Gelb</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Sep 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Sep-Oct; 140(1-2): 107632. <span class="">Published online 2023 Jun 24. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107632</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10748792</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=10748792&link_uid=10748792&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10748792/">Article</a><a ref="ordinalpos=10&ncbi_uid=10748792&link_uid=10748792&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10748792/pdf/nihms-1914500.pdf">PDF–902K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10995746" class="ui-helper-hidden-accessible">Select item 10995746</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox10995746" value="10995746" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=10995746&link_uid=10995746&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10995746/" class="view">Phenotypic, Molecular, and Functional Characterization of <em>CoQ7</em>-Related Primary CoQ<sub>10</sub> Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities</a></div><div class="supp"><div class="desc">Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmao, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Aug 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Aug; 139(4): 107630. <span class="">Published online 2023 Jun 22. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107630</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10995746</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=10995746&link_uid=10995746&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10995746/">Article</a><a ref="ordinalpos=11&ncbi_uid=10995746&link_uid=10995746&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10995746/pdf/nihms-1973617.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10171899" class="ui-helper-hidden-accessible">Select item 10171899</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox10171899" value="10171899" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=10171899&link_uid=10171899&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10171899/" class="view">COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity</a></div><div class="supp"><div class="desc">Ayca Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, Izzet Erdal, Halil Tuna Akar, Ali Dursun, Ayşegül Tokatlı, Serap Sivri</div><div class="details"><b>Mol Genet Metab</b>. <span class="citation-publication-date">2023 Jun; </span>139(2): 107607. <span class="">Published online 2023 May 11. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107607</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10171899</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=10171899&link_uid=10171899&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10171899/">Article</a><a ref="ordinalpos=12&ncbi_uid=10171899&link_uid=10171899&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10171899/pdf/main.pdf">PDF–1.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10182388" class="ui-helper-hidden-accessible">Select item 10182388</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox10182388" value="10182388" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=10182388&link_uid=10182388&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10182388/" class="view">Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects</a></div><div class="supp"><div class="desc">Lonneke de Boer, Alessandra Cambi, Lilly M. Verhagen, Paola de Haas, Clara D.M. van Karnebeek, Nenad Blau, Carlos R. Ferreira</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 May 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 May; 139(1): 107582. <span class="">Published online 2023 Apr 17. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107582</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10182388</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=10182388&link_uid=10182388&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10182388/">Article</a><a ref="ordinalpos=13&ncbi_uid=10182388&link_uid=10182388&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10182388/pdf/nihms-1894672.pdf">PDF–517K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10202445" class="ui-helper-hidden-accessible">Select item 10202445</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox10202445" value="10202445" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=10202445&link_uid=10202445&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10202445/" class="view">Brain Proton MR Spectroscopy Measurements in CLN3 Disease</a></div><div class="supp"><div class="desc">An N. Dang Do, Eva H. Baker, Cristan A. Farmer, Ariane G. Soldatos, Audrey E. Thurm, Forbes D. Porter</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 May 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 May; 139(1): 107584. <span class="">Published online 2023 Apr 15. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107584</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10202445</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=10202445&link_uid=10202445&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10202445/">Article</a><a ref="ordinalpos=14&ncbi_uid=10202445&link_uid=10202445&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10202445/pdf/nihms-1896762.pdf">PDF–1.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10330363" class="ui-helper-hidden-accessible">Select item 10330363</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox10330363" value="10330363" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=10330363&link_uid=10330363&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330363/" class="view">Epitope-level profiling in children with mitochondrial disease reveals limitations in the antibacterial antibody repertoire</a></div><div class="supp"><div class="desc">Eliza M. Gordon-Lipkin, Payal Banerjee, Elizabeth Thompson, Shannon Kruk, Jose Luis Marin Franco, Peter J. McGuire</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jun 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Jun; 139(2): 107581. <span class="">Published online 2023 Apr 14. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107581</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10330363</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=10330363&link_uid=10330363&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330363/">Article</a><a ref="ordinalpos=15&ncbi_uid=10330363&link_uid=10330363&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330363/pdf/nihms-1898031.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10164344" class="ui-helper-hidden-accessible">Select item 10164344</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox10164344" value="10164344" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=10164344&link_uid=10164344&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10164344/" class="view">Liver transplantation recovers hepatic <em>N</em>-glycosylation with persistent IgG glycosylation abnormalities: three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation</a></div><div class="supp"><div class="desc">Shawn Tahata, Jody Weckwerth, Anna Ligezka, Miao He, Hee Eun Lee, Julie Heimbach, Samar H Ibrahim, Tamas Kozicz, Katryn Furuya, Eva Morava</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Apr 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Apr; 138(4): 107559. <span class="">Published online 2023 Mar 17. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107559</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10164344</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=10164344&link_uid=10164344&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10164344/">Article</a><a ref="ordinalpos=16&ncbi_uid=10164344&link_uid=10164344&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10164344/pdf/nihms-1885675.pdf">PDF–615K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9969752" class="ui-helper-hidden-accessible">Select item 9969752</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox9969752" value="9969752" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=9969752&link_uid=9969752&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9969752/" class="view">Phenotypic changes in low-density lipoprotein particles as markers of adverse clinical outcomes in COVID-19</a></div><div class="supp"><div class="desc">Helison Rafael P. Carmo, Marcos Y. Yoshinaga, Alejandro Rosell Castillo, Adriano Britto Chaves-Filho, Isabella Bonilha, Joaquim Barreto, Stéfanie Primon Muraro, Gabriela Fabiano de Souza, Gustavo Gastão Davanzo, Maurício W. Perroud, Jr., Kishal Lukhna, Mpiko Ntsekhe, Sean Davidson, Licio A. Velloso, Wilson Nadruz, Luiz Sérgio F. Carvalho, Miguel Sáinz-Jaspeado, Alessandro S. Farias, José Luiz Proença-Módena, Pedro M. Moraes-Vieira, Sotirios K. Karathanasis, Derek Yellon, Sayuri Miyamoto, Alan T. Remaley, Andrei C. Sposito</div><div class="details"><b>Mol Genet Metab</b>. <span class="citation-publication-date">2023 Apr; </span>138(4): 107552. <span class="">Published online 2023 Feb 27. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107552</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9969752</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=9969752&link_uid=9969752&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9969752/">Article</a><a ref="ordinalpos=17&ncbi_uid=9969752&link_uid=9969752&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9969752/pdf/main.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10133179" class="ui-helper-hidden-accessible">Select item 10133179</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox10133179" value="10133179" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=10133179&link_uid=10133179&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10133179/" class="view">Racial and ethnic diversity of classic and clinical variant galactosemia in the United States</a></div><div class="supp"><div class="desc">Nichole M. Stettner, David J. Cutler, Judith L. Fridovich-Keil</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Apr 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Apr; 138(4): 107542. <span class="">Published online 2023 Feb 21. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107542</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10133179</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=10133179&link_uid=10133179&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10133179/">Article</a><a ref="ordinalpos=18&ncbi_uid=10133179&link_uid=10133179&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10133179/pdf/nihms-1878084.pdf">PDF–94K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox9907580" class="ui-helper-hidden-accessible">Select item 9907580</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox9907580" value="9907580" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=9907580&link_uid=9907580&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9907580/" class="view"><strong>Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter</strong></a></div><div class="supp"><div class="desc">Dafne D.G. Horovitz, Anneliese L. Barth, Welton C. Alves, Juan C. Llerena</div><div class="details"><b>Mol Genet Metab</b>. <span class="citation-publication-date">2023 Feb; </span>138(2): 107153. <span class="">Published online 2023 Feb 8. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2022.107153</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC9907580</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=9907580&link_uid=9907580&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9907580/">Article</a><a ref="ordinalpos=19&ncbi_uid=9907580&link_uid=9907580&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9907580/pdf/main.pdf">PDF–368K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10509718" class="ui-helper-hidden-accessible">Select item 10509718</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox10509718" value="10509718" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=10509718&link_uid=10509718&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/" class="view">Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms</a></div><div class="supp"><div class="desc">Denise Salazar, Karen M. Kloke, Rubén Bonilla Guerrero, Carlos R Ferreira, Nenad Blau</div><div class="details"><b>Mol Genet Metab</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Mar 1.</span><div>Published in final edited form as: <b>Mol Genet Metab</b>. 2023 Mar; 138(3): 107528. <span class="">Published online 2023 Feb 1. </span><span class="doi"><span>doi: </span>10.1016/j.ymgme.2023.107528</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10509718</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=10509718&link_uid=10509718&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/">Article</a><a ref="ordinalpos=20&ncbi_uid=10509718&link_uid=10509718&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10509718/pdf/nihms-1927931.pdf">PDF–545K</a></div></div></div></div></div>
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<div class="filters app_msg"><p><strong>Filter your results:</strong></p><ul class="portlet_list"><li class="filter_selected"><a title="Total Results">All (837) </a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter" filter="nih grants" sid="2" href="#" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter">NIH grants (721)</a></li><li><a class="empty_link" title="Embargoed Articles">Embargoed (0)</a></li></ul><ul class="inline_list app_msg_controls"><li><a href="/sites/myncbi/pmc/filters">Manage Filters</a></li></ul><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.CurrFilter" sid="1" type="hidden" value="all" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.LastFilter" sid="1" type="hidden" value="all" /></div>
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<textarea name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="pmc">"Mol Genet Metab"[jour]</textarea>
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|
||
<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67db53f067c23b31e047c3bf">"Mol Genet Metab"[jour] <span class="number">(837)</span></a>
|
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<div class="tertiary">PMC</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67db53e6cde49f3df7802ab1">"J Neurol Neurosurg Psychiatry"[jour] <span class="number">(19683)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67db53e084f3725e59bda30a">"Neurol Genet"[jour] <span class="number">(881)</span></a>
|
||
<div class="tertiary">PMC</div>
|
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|
||
<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67db53dbcde49f3df78005c5">"Cerebellum"[jour] <span class="number">(565)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
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|
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|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67db53d784f3725e59bd8b60">Homo sapiens grainyhead like transcription factor 2 (GRHL2), transcript variant ...</a>
|
||
<div class="ralinkpop offscreen_noflow">Homo sapiens grainyhead like transcription factor 2 (GRHL2), transcript variant 1, mRNA<div class="brieflinkpopdesc">gi|1653961546|ref|NM_024915.4|</div></div>
|
||
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