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597 lines
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115 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 Rep"[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=85841" 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="1PQiNU11CBYqTY4pZMei-QAWPGTXF2pLtMuhrldUlw" /><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%20Rep%22%5Bjour%5D',qk:'85841',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="UidCheckBox11910245" class="ui-helper-hidden-accessible">Select item 11910245</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox11910245" value="11910245" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=11910245&link_uid=11910245&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910245/" class="view">Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study</a></div><div class="supp"><div class="desc">Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101199. <span class="">Published online 2025 Feb 7. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2025.101199</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11910245</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=11910245&link_uid=11910245&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910245/">Article</a><a ref="ordinalpos=1&ncbi_uid=11910245&link_uid=11910245&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910245/pdf/main.pdf">PDF–588K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11910244" class="ui-helper-hidden-accessible">Select item 11910244</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11910244" value="11910244" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11910244&link_uid=11910244&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910244/" class="view">Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype</a></div><div class="supp"><div class="desc">Junpeng Cai, Xiaomin Zhou, Yu Zhou, Guanghuan Pi</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101177. <span class="">Published online 2024 Dec 20. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101177</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11910244</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11910244&link_uid=11910244&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910244/">Article</a><a ref="ordinalpos=2&ncbi_uid=11910244&link_uid=11910244&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11910244/pdf/main.pdf">PDF–2.9M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11847725" class="ui-helper-hidden-accessible">Select item 11847725</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox11847725" value="11847725" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=11847725&link_uid=11847725&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11847725/" class="view">A girl with intragenic variants in <em>MARS2</em> and a chondrodysplasia phenotype</a></div><div class="supp"><div class="desc">Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101198. <span class="">Published online 2025 Feb 6. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2025.101198</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11847725</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=11847725&link_uid=11847725&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11847725/">Article</a><a ref="ordinalpos=3&ncbi_uid=11847725&link_uid=11847725&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11847725/pdf/main.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11795632" class="ui-helper-hidden-accessible">Select item 11795632</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox11795632" value="11795632" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=11795632&link_uid=11795632&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11795632/" class="view">FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations</a></div><div class="supp"><div class="desc">Yazhou Huang, Xingxin Fang, Linya Ma, Jibo Zhang, Chao Wang, Taoran Gao, Dan Peng</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101193. <span class="">Published online 2025 Jan 22. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2025.101193</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11795632</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=11795632&link_uid=11795632&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11795632/">Article</a><a ref="ordinalpos=4&ncbi_uid=11795632&link_uid=11795632&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11795632/pdf/main.pdf">PDF–6.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11787024" class="ui-helper-hidden-accessible">Select item 11787024</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox11787024" value="11787024" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=11787024&link_uid=11787024&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11787024/" class="view">Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients</a></div><div class="supp"><div class="desc">Houda El Fissi, Fadoua Bouzid, Mohammed Said Sebbar, Mohammed Amine Serghini, Fouad Msanda, Najat Alif</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101186. <span class="">Published online 2025 Jan 16. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2025.101186</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11787024</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=11787024&link_uid=11787024&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11787024/">Article</a><a ref="ordinalpos=5&ncbi_uid=11787024&link_uid=11787024&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11787024/pdf/main.pdf">PDF–4.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11783393" class="ui-helper-hidden-accessible">Select item 11783393</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox11783393" value="11783393" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=11783393&link_uid=11783393&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11783393/" class="view">Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)</a></div><div class="supp"><div class="desc">Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-Eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101189. <span class="">Published online 2025 Jan 15. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2025.101189</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11783393</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=11783393&link_uid=11783393&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11783393/">Article</a><a ref="ordinalpos=6&ncbi_uid=11783393&link_uid=11783393&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11783393/pdf/main.pdf">PDF–2.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11751560" class="ui-helper-hidden-accessible">Select item 11751560</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox11751560" value="11751560" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=11751560&link_uid=11751560&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11751560/" class="view">The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland</a></div><div class="supp"><div class="desc">A. Fisher, R. Boruah, P.D. Mayne, A.A. Monavari, E. Crushell, I. Knerr</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101185. <span class="">Published online 2024 Dec 31. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101185</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11751560</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=11751560&link_uid=11751560&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11751560/">Article</a><a ref="ordinalpos=7&ncbi_uid=11751560&link_uid=11751560&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11751560/pdf/main.pdf">PDF–388K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11743810" class="ui-helper-hidden-accessible">Select item 11743810</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox11743810" value="11743810" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=11743810&link_uid=11743810&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11743810/" class="view">Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials</a></div><div class="supp"><div class="desc">Madoka Mori-Yoshimura, Hirotaka Ohki, Hideaki Mashimo, Kenji Inoue, Satoko Kumada, Takashi Kiyono, Akihiro Arimori, Mitsunobu Ikeda, Hirofumi Komaki</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101163. <span class="">Published online 2024 Dec 27. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101163</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11743810</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=11743810&link_uid=11743810&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11743810/">Article</a><a ref="ordinalpos=8&ncbi_uid=11743810&link_uid=11743810&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11743810/pdf/main.pdf">PDF–487K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11733273" class="ui-helper-hidden-accessible">Select item 11733273</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox11733273" value="11733273" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=11733273&link_uid=11733273&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11733273/" class="view">Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant</a></div><div class="supp"><div class="desc">Wei Zhou, Huizhong Li, Li Yang</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101184. <span class="">Published online 2024 Dec 27. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101184</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11733273</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=11733273&link_uid=11733273&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11733273/">Article</a><a ref="ordinalpos=9&ncbi_uid=11733273&link_uid=11733273&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11733273/pdf/main.pdf">PDF–1.9M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11720876" class="ui-helper-hidden-accessible">Select item 11720876</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox11720876" value="11720876" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=11720876&link_uid=11720876&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11720876/" class="view">Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study</a></div><div class="supp"><div class="desc">Jeanine R. Jarnes, Nishitha R. Pillai, Alia Ahmed, Sofia Shrestha, Molly Stark, Chester B. Whitley</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101179. <span class="">Published online 2024 Dec 17. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101179</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11720876</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=11720876&link_uid=11720876&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11720876/">Article</a><a ref="ordinalpos=10&ncbi_uid=11720876&link_uid=11720876&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11720876/pdf/main.pdf">PDF–1.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11719413" class="ui-helper-hidden-accessible">Select item 11719413</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox11719413" value="11719413" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=11719413&link_uid=11719413&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11719413/" class="view">In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction</a></div><div class="supp"><div class="desc">Uri Sprecher, Jeevitha Dsouza, Monzer Marisat, Dinorah Barasch, Kumudesh Mishra, Or Kakhlon, Joshua Manor, Yair Anikster, Miguel Weil</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2025 Mar; </span>42: 101172. <span class="">Published online 2024 Dec 16. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101172</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11719413</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=11719413&link_uid=11719413&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11719413/">Article</a><a ref="ordinalpos=11&ncbi_uid=11719413&link_uid=11719413&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11719413/pdf/main.pdf">PDF–4.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11667057" class="ui-helper-hidden-accessible">Select item 11667057</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox11667057" value="11667057" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=11667057&link_uid=11667057&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11667057/" class="view">Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria</a></div><div class="supp"><div class="desc">Akram Ehsasat Vatan, Amin Mottaghizade Gargari, Arian Haghtalab, Nima Ebrahimpour Seraydar</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101173. <span class="">Published online 2024 Dec 8. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101173</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11667057</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=11667057&link_uid=11667057&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11667057/">Article</a><a ref="ordinalpos=12&ncbi_uid=11667057&link_uid=11667057&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11667057/pdf/main.pdf">PDF–449K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11638625" class="ui-helper-hidden-accessible">Select item 11638625</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox11638625" value="11638625" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=11638625&link_uid=11638625&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11638625/" class="view">Oral health care knowledge among Phenylketonuria patients in the Latvian population</a></div><div class="supp"><div class="desc">Iveta Abola, Nikola Anna Intlere, Anda Brinkmane, Sabine Laktina, Agnese Zarina, Lauma Vasilevska, Ingus Skadins, Georgijs Moisejevs, Linda Gailite, Madara Auzenbaha</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101167. <span class="">Published online 2024 Nov 27. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101167</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11638625</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=11638625&link_uid=11638625&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11638625/">Article</a><a ref="ordinalpos=13&ncbi_uid=11638625&link_uid=11638625&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11638625/pdf/main.pdf">PDF–571K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11625244" class="ui-helper-hidden-accessible">Select item 11625244</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox11625244" value="11625244" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=11625244&link_uid=11625244&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11625244/" class="view">Homozygous <em>slc25a20</em> zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis</a></div><div class="supp"><div class="desc">Ryuichi Hishida, Kohei Ishiguro, Tomoyuki Yamanaka, Shinya Toyokuni, Hideaki Matsui</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101165. <span class="">Published online 2024 Nov 22. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101165</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11625244</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=11625244&link_uid=11625244&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11625244/">Article</a><a ref="ordinalpos=14&ncbi_uid=11625244&link_uid=11625244&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11625244/pdf/main.pdf">PDF–4.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11617784" class="ui-helper-hidden-accessible">Select item 11617784</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox11617784" value="11617784" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=11617784&link_uid=11617784&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11617784/" class="view">Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons</a></div><div class="supp"><div class="desc">Lucie Thomas, Lynne Aitkenhead, Karolina M. Stepien, Alison Woodall, Anita Macdonald, Cristina Romani</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101160. <span class="">Published online 2024 Nov 21. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101160</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11617784</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=11617784&link_uid=11617784&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11617784/">Article</a><a ref="ordinalpos=15&ncbi_uid=11617784&link_uid=11617784&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11617784/pdf/main.pdf">PDF–916K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11612342" class="ui-helper-hidden-accessible">Select item 11612342</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox11612342" value="11612342" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=11612342&link_uid=11612342&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612342/" class="view">A novel frameshift variant in the <em>SLC2A1</em> gene causing a mild phenotype of GLUT1 deficiency syndrome: case report</a></div><div class="supp"><div class="desc">Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, Soraia Poloni, Fabiano Oliveira Poswar, Carolina Fischinger Moura de Souza, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101164. <span class="">Published online 2024 Nov 19. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101164</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11612342</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=11612342&link_uid=11612342&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612342/">Article</a><a ref="ordinalpos=16&ncbi_uid=11612342&link_uid=11612342&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612342/pdf/main.pdf">PDF–440K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11585715" class="ui-helper-hidden-accessible">Select item 11585715</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox11585715" value="11585715" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=11585715&link_uid=11585715&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11585715/" class="view">A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics</a></div><div class="supp"><div class="desc">Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101158. <span class="">Published online 2024 Nov 9. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101158</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11585715</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=11585715&link_uid=11585715&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11585715/">Article</a><a ref="ordinalpos=17&ncbi_uid=11585715&link_uid=11585715&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11585715/pdf/main.pdf">PDF–322K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11513499" class="ui-helper-hidden-accessible">Select item 11513499</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox11513499" value="11513499" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=11513499&link_uid=11513499&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11513499/" class="view">Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review</a></div><div class="supp"><div class="desc">Mahmood Noori, Omar Jarrah, Aisha Al Shamsi</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101156. <span class="">Published online 2024 Oct 18. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101156</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11513499</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=11513499&link_uid=11513499&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11513499/">Article</a><a ref="ordinalpos=18&ncbi_uid=11513499&link_uid=11513499&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11513499/pdf/main.pdf">PDF–394K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11530693" class="ui-helper-hidden-accessible">Select item 11530693</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox11530693" value="11530693" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=11530693&link_uid=11530693&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530693/" class="view">Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect</a></div><div class="supp"><div class="desc">Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez, Mauricio Rojas-Maruri, Cecilia Ridaura-Sanz</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101155. <span class="">Published online 2024 Oct 16. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101155</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11530693</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=11530693&link_uid=11530693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530693/">Article</a><a ref="ordinalpos=19&ncbi_uid=11530693&link_uid=11530693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530693/pdf/main.pdf">PDF–4.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11530596" class="ui-helper-hidden-accessible">Select item 11530596</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox11530596" value="11530596" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=11530596&link_uid=11530596&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530596/" class="view">Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases</a></div><div class="supp"><div class="desc">Victoria Sokalski, Kolja Lau, Tereza Cairns, Claudia Sommer, Nurcan Üçeyler, Peter Nordbeck</div><div class="details"><b>Mol Genet Metab Rep</b>. <span class="citation-publication-date">2024 Dec; </span>41: 101150. <span class="">Published online 2024 Oct 16. </span><span class="doi"><span>doi: </span>10.1016/j.ymgmr.2024.101150</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11530596</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=11530596&link_uid=11530596&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530596/">Article</a><a ref="ordinalpos=20&ncbi_uid=11530596&link_uid=11530596&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11530596/pdf/main.pdf">PDF–1.1M</a></div></div></div></div></div>
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno2">Page </label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.cPage" id="pageno2" type="text" class="num" sid="6" value="1" last="59" /> of 59</h3><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="8" page="2" accesskey="k" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="9" page="59" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Entrez_Pager.Page">Last >></a></div>
|
||
</div>
|
||
<div class="results_settings bottom"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set2" data-jigconfig="triggerPosition : 'top center',destPosition : 'bottom center',destSelector : '#display_settings_menu2', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set2 ~ 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="12" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="13" href="#" sourceContent="display_settings_menu2" 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="14" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu2" 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.sPresentation2" sid="21" value="DocSum" format="" id="DocSum2" checked="true" /><label for="DocSum2">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="22" value="DocSum" format="text" id="DocSumtext2" /><label for="DocSumtext2">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="23" value="MEDLINE" format="text" id="MEDLINEtext2" /><label for="MEDLINEtext2">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation2" sid="24" value="uilist" format="text" id="uilisttext2" /><label for="uilisttext2">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.sPageSize2" sid="11" value="5" id="ps52" /><label for="ps52">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="12" value="10" id="ps102" /><label for="ps102">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="13" value="20" id="ps202" checked="true" /><label for="ps202">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="14" value="50" id="ps502" /><label for="ps502">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize2" sid="15" value="100" id="ps1002" /><label for="ps1002">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.sSort2" sid="11" value="none" id="none2" checked="true" /><label for="none2">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="12" value="PubDate" id="PubDate2" /><label for="PubDate2">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="13" value="Journal" id="Journal2" /><label for="Journal2">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort2" sid="14" value="PmcLiveDate" id="PmcLiveDate2" /><label for="PmcLiveDate2">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="2" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto2" data-jigconfig="triggerPosition:'top center', destPosition : 'bottom center',destSelector : '#send_to_menu2', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu2" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu2 input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu2 div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu2 div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto2").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu2 div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu2 input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu2" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="13" value="Mail" id="dest_Mail2" /><label for="dest_Mail2">E-mail</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="14" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FFormat2" sid="101"><option value="DocSum" format="text" selected="selected">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="XML" format="text">XML</option><option value="uilist" format="text">PMCID List</option></select></li><li><label for="file_sort2">Sort by</label><select id="file_sort2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FSort2" sid="51"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu mail" id="submenu_Mail2" style="display: none;"><p id="email_alert2" class="hidden"></p><ul><li id="email_desc2">Search: "Mol Genet Metab Rep"[jour] </li><li><label for="email_format2">Format</label><select id="email_format2" name="email_format2"><option value="DocSum" selected="selected">Summary</option><option value="DocSum" format="text">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="uilist" format="text">PMCID List</option></select></li><li id="email_sort_option2"><label for="email_sort2">Sort by</label><select id="email_sort2" name="email_sort2"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li><li id="email_count_option2"><label for="email_count2">Number to send</label><select id="email_count2" name="email_count2"><option value="5">5</option><option value="10">10</option><option value="20" selected="selected">20</option><option value="50">50</option><option value="100">100</option></select></li><li id="email_start_option2"><label for="email_start2">Start with item</label><input id="email_start2" name="email_start2" type="text" size="4" value="1" /></li><li><label for="email_address2">E-mail</label><input id="email_address2" value="" name="email_address2" /></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="12" class="button_apply email" type="submit" cmd="Mail" qk="85841">E-mail</button><div><a href="/corehtml/query/MyNCBI/exquery/spam_note.html" onclick="window.open('/corehtml/query/MyNCBI/exquery/spam_note.html','','resizable=yes,scrollbars=yes,toolbar=no,location=no,directories=no,status=no,menubar=no,copyhistory=no,alwaysRaised=yes,depend=yes,top=50,left=200,width=550,height=430');return false;">"SPAM" filtering software notice</a></div></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="13" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="14" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
<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 (1176) </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 (93)</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>
|
||
|
||
<div class="hidden"></div>
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Find related data</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="RelatedDataLinks" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul class="related">
|
||
<li>
|
||
<label for="rdDatabase">Database: </label>
|
||
<select name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdDatabase" sid="1" id="rdDatabase">
|
||
<option value="rddbto">Select</option>
|
||
<option value="bioproject">BioProject</option>
|
||
<option value="books">Books</option>
|
||
<option value="clinvar">ClinVar</option>
|
||
<option value="cdd">Conserved Domains</option>
|
||
<option value="gap">dbGaP</option>
|
||
<option value="gene">Gene</option>
|
||
<option value="gds">GEO DataSets</option>
|
||
<option value="geoprofiles">GEO Profiles</option>
|
||
<option value="medgen">MedGen</option>
|
||
<option value="nuccore">Nucleotide</option>
|
||
<option value="omim">OMIM</option>
|
||
<option value="protein">Protein</option>
|
||
<option value="pcassay">PubChem BioAssay</option>
|
||
<option value="pccompound">PubChem Compound</option>
|
||
<option value="pcsubstance">PubChem Substance</option>
|
||
<option value="pubmed">PubMed</option>
|
||
<option value="snp">SNP</option>
|
||
<option value="sra">SRA</option>
|
||
<option value="structure">Structure</option>
|
||
<option value="taxonomy">Taxonomy</option>
|
||
</select>
|
||
</li>
|
||
<li>
|
||
<div id="rdOption" style="display: none;">
|
||
<label for="rdLinkOption">Option: </label>
|
||
<select name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdLinkOption" sid="1" id="rdLinkOption"></select>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
<p id="rdDescr"></p>
|
||
<button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.rdFind" sid="1" id="rdFind" disabled="disabled" class="jig-ncbibutton">Find items</button>
|
||
<input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_MultiItemSupl.Pmc_RelatedDataLinks.DbName" sid="1" type="hidden" id="DbName" value="pmc" />
|
||
<input type="hidden" id="rdqk" value="85841" />
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Search details</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Discovery_SearchDetails" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<textarea name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="pmc">"Mol Genet Metab Rep"[jour]</textarea>
|
||
<div class="buttonwrap">
|
||
<button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsQuery" sid="1" class="jig-ncbibutton">Search</button>
|
||
</div>
|
||
<a class="seemore" href="/pmc/details?querykey=85841" ref="log$=details">
|
||
See more...
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67db539467c23b31e046c845">"Mol Genet Metab Rep"[jour] <span class="number">(1176)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67db537c2f30673f7b8e2206">"Clin Diagn Lab Immunol"[jour] <span class="number">(2268)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67db535f2f30673f7b8dd344">"Nat Rev Dis Primers"[jour] <span class="number">(96)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67db534484f3725e59bbc9ea">"Pediatrics"[jour] <span class="number">(3191)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67db5337cde49f3df77e4eb3">"J Clin Immunol"[jour] <span class="number">(970)</span></a>
|
||
<div class="tertiary">PMC</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<div class="breadcrumbs">You are here:
|
||
<span id="breadcrumb_text"><a href="/guide/">NCBI</a> > <a href="https://www.ncbi.nlm.nih.gov/guide/literature/">Literature</a> > PubMed Central (PMC)</span></div>
|
||
<a id="help-desk-link" class="help_desk" href="https://support.ncbi.nlm.nih.gov/ics/support/KBList.asp?Time=2025-03-19T19:30:28-04:00&Snapshot=%2Fprojects%2FPMC%2FPMCEntrez@3.28&Host=portal104&ncbi_phid=CE8B75427DB4C7F10000000000800069&ncbi_session=CE8BC1E97D9F05E1_0182SID&from=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2F&folderID=132&db=pmc&Ncbi_App=entrez&Page=docsum&style=classic&deptID=28049&report=docsum&querykey=85841&query=%22Mol%20Genet%20Metab%20Rep%22[jour];%20Page%20number:%201;%20Page%20size:%2020&term=%22Mol%20Genet%20Metab%20Rep%22[jour]" rel="noopener noreferrer" target="_blank">Support Center</a>
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<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=pmc&ncbi_pdid=docsum&ncbi_phid=CE8B75427DB4C7F10000000000800069" /></noscript>
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