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||
<!--
|
||
UID=6639
|
||
ConceptID=C0017919
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6639</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0017919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Disorder of glycogen metabolism; glycogen storage disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>GSD - Glycogen storage disease (29633007); Glycogen storage disease (29633007); Glycogenosis (29633007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/5837">PYGM</a>, <a target="_blank" href="/gene/5261">PHKG2</a>, <a target="_blank" href="/gene/5257">PHKB</a>, <a target="_blank" href="/gene/5256">PHKA2</a>, <a target="_blank" href="/gene/5255">PHKA1</a>, <a target="_blank" href="/gene/5236">PGM1</a>, <a target="_blank" href="/gene/5224">PGAM2</a>, <a target="_blank" href="/gene/5213">PFKM</a>, <a target="_blank" href="/gene/3939">LDHA</a>, <a target="_blank" href="/gene/2992">GYG1</a>, <a target="_blank" href="/gene/2632">GBE1</a>, <a target="_blank" href="/gene/2548">GAA</a>, <a target="_blank" href="/gene/2542">SLC37A4</a>, <a target="_blank" href="/gene/2538">G6PC1</a>, <a target="_blank" href="/gene/2027">ENO3</a>, <a target="_blank" href="/gene/226">ALDOA</a>, <a target="_blank" href="/gene/178">AGL</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002412" target="_blank">MONDO:0002412</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS232200" target="_blank">PS232200</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79201">ORPHA79201</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017919[DISCUI]&test_type=Clinical" ref="ncbi_uid=6639">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6639" ref="ncbi_uid=6639">V</a></span></span><span class="TLline">Glycogen storage disease</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268147[DISCUI]&test_type=Clinical" ref="ncbi_uid=468559">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=468559">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468559" ref="ncbi_uid=468559">V</a></span></span><span class="TLline"><a href="/medgen/468559" ref="tree=GTR&ncbi_uid=468559&link_uid=468559" title="View MedGen record for 'Glycogen phosphorylase kinase deficiency'">Glycogen phosphorylase kinase deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3694531[DISCUI]&test_type=Clinical" ref="ncbi_uid=854172">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854172" target="_blank" href="/omim/300798">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=854172">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854172" ref="ncbi_uid=854172">V</a></span></span><span class="TLline"><a href="/medgen/854172" ref="tree=GTR&ncbi_uid=854172&link_uid=854172" title="View MedGen record for 'Glycogen storage disease IXa1'">Glycogen storage disease IXa1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0543514[DISCUI]&test_type=Clinical" ref="ncbi_uid=107772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=107772" target="_blank" href="/omim/172490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=107772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=107772" ref="ncbi_uid=107772">V</a></span></span><span class="TLline"><a href="/medgen/107772" ref="tree=GTR&ncbi_uid=107772&link_uid=107772" title="View MedGen record for 'Glycogen storage disease IXb'">Glycogen storage disease IXb</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751643[DISCUI]&test_type=Clinical" ref="ncbi_uid=442778">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442778" target="_blank" href="/omim/172471">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=442778">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442778" ref="ncbi_uid=442778">V</a></span></span><span class="TLline"><a href="/medgen/442778" ref="tree=GTR&ncbi_uid=442778&link_uid=442778" title="View MedGen record for 'Glycogen storage disease IXc'">Glycogen storage disease IXc</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845151[DISCUI]&test_type=Clinical" ref="ncbi_uid=335112">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335112" target="_blank" href="/omim/300559">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK55061/" ref="ncbi_uid=335112">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335112" ref="ncbi_uid=335112">V</a></span></span><span class="TLline"><a href="/medgen/335112" ref="tree=GTR&ncbi_uid=335112&link_uid=335112" title="View MedGen record for 'Glycogen storage disease IXd'">Glycogen storage disease IXd</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931743[DISCUI]&test_type=Clinical" ref="ncbi_uid=419152">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419152" target="_blank" href="/omim/150000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419152" ref="ncbi_uid=419152">V</a></span></span><span class="TLline"><a href="/medgen/419152" ref="tree=GTR&ncbi_uid=419152&link_uid=419152" title="View MedGen record for 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency'">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752027[DISCUI]&test_type=Clinical" ref="ncbi_uid=442873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442873" target="_blank" href="/omim/131370">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442873" ref="ncbi_uid=442873">V</a></span></span><span class="TLline"><a href="/medgen/442873" ref="tree=GTR&ncbi_uid=442873&link_uid=442873" title="View MedGen record for 'Glycogen storage disease due to muscle beta-enolase deficiency'">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017922[DISCUI]&test_type=Clinical" ref="ncbi_uid=6641">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0017922[DISCUI]&test_type=Research" ref="ncbi_uid=6641">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6641" target="_blank" href="/omim/232400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK26372/" ref="ncbi_uid=6641">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6641" ref="ncbi_uid=6641">V</a></span></span><span class="TLline"><a href="/medgen/6641" ref="tree=GTR&ncbi_uid=6641&link_uid=6641" title="View MedGen record for 'Glycogen storage disease type III'">Glycogen storage disease type III</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1968739[DISCUI]&test_type=Clinical" ref="ncbi_uid=369842">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369842" target="_blank" href="/omim/232400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369842" ref="ncbi_uid=369842">V</a></span></span><span class="TLline"><a href="/medgen/369842" ref="tree=GTR&ncbi_uid=369842&link_uid=369842" title="View MedGen record for 'Glycogen storage disease IIIa'">Glycogen storage disease IIIa</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1968740[DISCUI]&test_type=Clinical" ref="ncbi_uid=369843">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369843" target="_blank" href="/omim/232400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369843" ref="ncbi_uid=369843">V</a></span></span><span class="TLline"><a href="/medgen/369843" ref="tree=GTR&ncbi_uid=369843&link_uid=369843" title="View MedGen record for 'Glycogen storage disease IIIb'">Glycogen storage disease IIIb</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369844" target="_blank" href="/omim/232400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369844" ref="ncbi_uid=369844">V</a></span></span><span class="TLline"><a href="/medgen/369844" ref="tree=GTR&ncbi_uid=369844&link_uid=369844" title="View MedGen record for 'Glycogen storage disease IIIc'">Glycogen storage disease IIIc</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369845" target="_blank" href="/omim/232400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/369845" ref="tree=GTR&ncbi_uid=369845&link_uid=369845" title="View MedGen record for 'Glycogen storage disease IIId'">Glycogen storage disease IIId</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268149[DISCUI]&test_type=Clinical" ref="ncbi_uid=120613">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120613" target="_blank" href="/omim/261670">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120613" ref="ncbi_uid=120613">V</a></span></span><span class="TLline"><a href="/medgen/120613" ref="tree=GTR&ncbi_uid=120613&link_uid=120613" title="View MedGen record for 'Glycogen storage disease type X'">Glycogen storage disease type X</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150754[DISCUI]&test_type=Clinical" ref="ncbi_uid=462104">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462104" target="_blank" href="/omim/603942">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462104" ref="ncbi_uid=462104">V</a></span></span><span class="TLline"><a href="/medgen/462104" ref="tree=GTR&ncbi_uid=462104&link_uid=462104" title="View MedGen record for 'Glycogen storage disease XV'">Glycogen storage disease XV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017920[DISCUI]&test_type=Clinical" ref="ncbi_uid=6640">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=6640">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6640" ref="ncbi_uid=6640">V</a></span></span><span class="TLline"><a href="/medgen/6640" ref="tree=GTR&ncbi_uid=6640&link_uid=6640" title="View MedGen record for 'Glycogen storage disease, type I'">Glycogen storage disease, type I</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268146[DISCUI]&test_type=Clinical" ref="ncbi_uid=78644">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78644" target="_blank" href="/omim/232220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=78644">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78644" ref="ncbi_uid=78644">V</a></span></span><span class="TLline"><a href="/medgen/78644" ref="tree=GTR&ncbi_uid=78644&link_uid=78644" title="View MedGen record for 'Glucose-6-phosphate transport defect'">Glucose-6-phosphate transport defect</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2919796[DISCUI]&test_type=Clinical" ref="ncbi_uid=415885">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2919796[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=415885">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=415885" target="_blank" href="/omim/232200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1312/" ref="ncbi_uid=415885">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=415885" ref="ncbi_uid=415885">V</a></span></span><span class="TLline"><a href="/medgen/415885" ref="tree=GTR&ncbi_uid=415885&link_uid=415885" title="View MedGen record for 'Glycogen storage disease due to glucose-6-phosphatase deficiency type IA'">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017921[DISCUI]&test_type=Clinical" ref="ncbi_uid=5340">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5340" target="_blank" href="/omim/232300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1261/" ref="ncbi_uid=5340">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5340" ref="ncbi_uid=5340">V</a></span></span><span class="TLline"><a href="/medgen/5340" ref="tree=GTR&ncbi_uid=5340&link_uid=5340" title="View MedGen record for 'Glycogen storage disease, type II'">Glycogen storage disease, type II</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/148252" ref="tree=GTR&ncbi_uid=148252&link_uid=148252" title="View MedGen record for 'Glycogen storage disease type II, infantile'">Glycogen storage disease type II, infantile</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017923[DISCUI]&test_type=Clinical" ref="ncbi_uid=6642">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6642" target="_blank" href="/omim/232500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK115333/" ref="ncbi_uid=6642">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6642" ref="ncbi_uid=6642">V</a></span></span><span class="TLline"><a href="/medgen/6642" ref="tree=GTR&ncbi_uid=6642&link_uid=6642" title="View MedGen record for 'Glycogen storage disease, type IV'">Glycogen storage disease, type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017924[DISCUI]&test_type=Clinical" ref="ncbi_uid=5341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5341" target="_blank" href="/omim/232600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1344/" ref="ncbi_uid=5341">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5341" ref="ncbi_uid=5341">V</a></span></span><span class="TLline"><a href="/medgen/5341" ref="tree=GTR&ncbi_uid=5341&link_uid=5341" title="View MedGen record for 'Glycogen storage disease, type V'">Glycogen storage disease, type V</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017926[DISCUI]&test_type=Clinical" ref="ncbi_uid=5342">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5342" target="_blank" href="/omim/232800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5342" ref="ncbi_uid=5342">V</a></span></span><span class="TLline"><a href="/medgen/5342" ref="tree=GTR&ncbi_uid=5342&link_uid=5342" title="View MedGen record for 'Glycogen storage disease, type VII'">Glycogen storage disease, type VII</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272066[DISCUI]&test_type=Clinical" ref="ncbi_uid=82895">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0272066[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=82895">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82895" target="_blank" href="/omim/103850">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82895" ref="ncbi_uid=82895">V</a></span></span><span class="TLline"><a href="/medgen/82895" ref="tree=GTR&ncbi_uid=82895&link_uid=82895" title="View MedGen record for 'HNSHA due to aldolase A deficiency'">HNSHA due to aldolase A deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752015[DISCUI]&test_type=Clinical" ref="ncbi_uid=414536">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414536" target="_blank" href="/omim/171900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1332/" ref="ncbi_uid=414536">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414536" ref="ncbi_uid=414536">V</a></span></span><span class="TLline"><a href="/medgen/414536" ref="tree=GTR&ncbi_uid=414536&link_uid=414536" title="View MedGen record for 'PGM1-congenital disorder of glycosylation'">PGM1-congenital disorder of glycosylation</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/472889" ref="tree=MeSH" title="MedGen record for Carbohydrate metabolism disease">Carbohydrate metabolism disease</a></span><ul><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span><ul><li><span class="matched_ds">Glycogen storage disease</span><ul><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/501176" ref="tree=MeSH" title="MedGen record for Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468559" ref="tree=MeSH" title="MedGen record for Glycogen phosphorylase kinase deficiency">Glycogen phosphorylase kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/453209" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to liver phosphorylase kinase deficiency">Glycogen storage disease due to liver phosphorylase kinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/854172" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXa1">Glycogen storage disease IXa1</a></span></li><li><span class="TLline"><a href="/medgen/107772" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXb">Glycogen storage disease IXb</a></span></li><li><span class="TLline"><a href="/medgen/442778" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXc">Glycogen storage disease IXc</a></span></li><li><span class="TLline"><a href="/medgen/335112" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXd">Glycogen storage disease IXd</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1805539" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase deficiency">Glycogen storage disease due to lactate dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/481534" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</a></span></li><li><span class="TLline"><a href="/medgen/419152" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/442873" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to muscle beta-enolase deficiency">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6641" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type III">Glycogen storage disease type III</a></span><ul><li><span class="TLline"><a href="/medgen/369842" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIa">Glycogen storage disease IIIa</a></span></li><li><span class="TLline"><a href="/medgen/369843" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIb">Glycogen storage disease IIIb</a></span></li><li><span class="TLline"><a href="/medgen/369844" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIc">Glycogen storage disease IIIc</a></span></li><li><span class="TLline"><a href="/medgen/369845" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIId">Glycogen storage disease IIId</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42261" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type VIII">Glycogen storage disease type VIII</a></span></li><li><span class="TLline"><a href="/medgen/120613" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type X">Glycogen storage disease type X</a></span></li><li><span class="TLline"><a href="/medgen/462104" ref="tree=MeSH" title="MedGen record for Glycogen storage disease XV">Glycogen storage disease XV</a></span></li><li><span class="TLline"><a href="/medgen/6640" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type I">Glycogen storage disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/78644" ref="tree=MeSH" title="MedGen record for Glucose-6-phosphate transport defect">Glucose-6-phosphate transport defect</a></span></li><li><span class="TLline"><a href="/medgen/415885" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li><li><span class="TLline"><a href="/medgen/87455" ref="tree=MeSH" title="MedGen record for Phosphate transport defect">Phosphate transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span><ul><li><span class="TLline"><a href="/medgen/923868" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, infantile onset">Glycogen storage disease due to acid maltase deficiency, infantile onset</a></span></li><li><span class="TLline"><a href="/medgen/575206" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, late-onset">Glycogen storage disease due to acid maltase deficiency, late-onset</a></span></li><li><span class="TLline"><a href="/medgen/148252" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type II, infantile">Glycogen storage disease type II, infantile</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6642" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type IV">Glycogen storage disease, type IV</a></span><ul><li><span class="TLline"><a href="/medgen/342338" ref="tree=MeSH" title="MedGen record for Adult polyglucosan body disease">Adult polyglucosan body disease</a></span></li><li><span class="TLline"><a href="/medgen/343525" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/1842442" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/343524" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/343523" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/383883" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/344701" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</a></span></li><li><span class="TLline"><a href="/medgen/1826169" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5341" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type V">Glycogen storage disease, type V</a></span></li><li><span class="TLline"><a href="/medgen/6643" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VI">Glycogen storage disease, type VI</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/82895" ref="tree=MeSH" title="MedGen record for HNSHA due to aldolase A deficiency">HNSHA due to aldolase A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337919" ref="tree=MeSH" title="MedGen record for Lethal congenital glycogen storage disease of heart">Lethal congenital glycogen storage disease of heart</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/863042" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 1">Polyglucosan body myopathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/865668" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 with immunodeficiency">Polyglucosan body myopathy 1 with immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/865669" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 without immunodeficiency">Polyglucosan body myopathy 1 without immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863889" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 2">Polyglucosan body myopathy type 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11227&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glycogen storage disease</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34836082">Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derks TGJ,
|
||
Rodriguez-Buritica DF,
|
||
Ahmad A,
|
||
de Boer F,
|
||
Couce ML,
|
||
Grünert SC,
|
||
Labrune P,
|
||
López Maldonado N,
|
||
Fischinger Moura de Souza C,
|
||
Riba-Wolman R,
|
||
Rossi A,
|
||
Saavedra H,
|
||
Gupta RN,
|
||
Valayannopoulos V,
|
||
Mitchell J</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Oct 27;13(11)
|
||
doi: 10.3390/nu13113828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34836082" target="_blank">34836082</a><a href="/pmc/articles/PMC8621617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25356975">Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
||
Austin SL,
|
||
Abdenur JE,
|
||
Arn P,
|
||
Bali DS,
|
||
Boney A,
|
||
Chung WK,
|
||
Dagli AI,
|
||
Dale D,
|
||
Koeberl D,
|
||
Somers MJ,
|
||
Wechsler SB,
|
||
Weinstein DA,
|
||
Wolfsdorf JI,
|
||
Watson MS;
|
||
American College of Medical Genetics and Genomics</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2014 Nov;16(11):e1.
|
||
doi: 10.1038/gim.2014.128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25356975" target="_blank">25356975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20631546">Glycogen storage disease type III diagnosis and management guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
||
Austin SL,
|
||
Arn P,
|
||
Bali DS,
|
||
Boney A,
|
||
Case LE,
|
||
Chung WK,
|
||
Desai DM,
|
||
El-Gharbawy A,
|
||
Haller R,
|
||
Smit GP,
|
||
Smith AD,
|
||
Hobson-Webb LD,
|
||
Wechsler SB,
|
||
Weinstein DA,
|
||
Watson MS;
|
||
ACMG</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Jul;12(7):446-63.
|
||
doi: 10.1097/GIM.0b013e3181e655b6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20631546" target="_blank">20631546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (126)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx" target="_blank">American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37679331">Glycogen storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannah WB,
|
||
Derks TGJ,
|
||
Drumm ML,
|
||
Grünert SC,
|
||
Kishnani PS,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Sep 7;9(1):46.
|
||
doi: 10.1038/s41572-023-00456-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37679331" target="_blank">37679331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37476587">Glycogen storage diseases: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
|
||
Özen H</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jul 7;29(25):3932-3963.
|
||
doi: 10.3748/wjg.v29.i25.3932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34836082">Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derks TGJ,
|
||
Rodriguez-Buritica DF,
|
||
Ahmad A,
|
||
de Boer F,
|
||
Couce ML,
|
||
Grünert SC,
|
||
Labrune P,
|
||
López Maldonado N,
|
||
Fischinger Moura de Souza C,
|
||
Riba-Wolman R,
|
||
Rossi A,
|
||
Saavedra H,
|
||
Gupta RN,
|
||
Valayannopoulos V,
|
||
Mitchell J</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Oct 27;13(11)
|
||
doi: 10.3390/nu13113828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34836082" target="_blank">34836082</a><a href="/pmc/articles/PMC8621617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33554498">Advances in diagnosis and management of Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davison JE</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2020 Oct 2;24(2):3-8.
|
||
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33554498" target="_blank">33554498</a><a href="/pmc/articles/PMC8518093" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25356975">Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
||
Austin SL,
|
||
Abdenur JE,
|
||
Arn P,
|
||
Bali DS,
|
||
Boney A,
|
||
Chung WK,
|
||
Dagli AI,
|
||
Dale D,
|
||
Koeberl D,
|
||
Somers MJ,
|
||
Wechsler SB,
|
||
Weinstein DA,
|
||
Wolfsdorf JI,
|
||
Watson MS;
|
||
American College of Medical Genetics and Genomics</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2014 Nov;16(11):e1.
|
||
doi: 10.1038/gim.2014.128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25356975" target="_blank">25356975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1206)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37679331">Glycogen storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannah WB,
|
||
Derks TGJ,
|
||
Drumm ML,
|
||
Grünert SC,
|
||
Kishnani PS,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Sep 7;9(1):46.
|
||
doi: 10.1038/s41572-023-00456-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37679331" target="_blank">37679331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37476587">Glycogen storage diseases: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
|
||
Özen H</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jul 7;29(25):3932-3963.
|
||
doi: 10.3748/wjg.v29.i25.3932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32745073">Pompe disease: pathogenesis, molecular genetics and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taverna S,
|
||
Cammarata G,
|
||
Colomba P,
|
||
Sciarrino S,
|
||
Zizzo C,
|
||
Francofonte D,
|
||
Zora M,
|
||
Scalia S,
|
||
Brando C,
|
||
Curto AL,
|
||
Marsana EM,
|
||
Olivieri R,
|
||
Vitale S,
|
||
Duro G</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2020 Aug 3;12(15):15856-15874.
|
||
doi: 10.18632/aging.103794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32745073" target="_blank">32745073</a><a href="/pmc/articles/PMC7467391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31894075">The Glycogen Storage Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marion RW,
|
||
Paljevic E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2020 Jan;41(1):41-44.
|
||
doi: 10.1542/pir.2018-0146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31894075" target="_blank">31894075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18929906">Pompe's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Ploeg AT,
|
||
Reuser AJ</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2008 Oct 11;372(9646):1342-53.
|
||
doi: 10.1016/S0140-6736(08)61555-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18929906" target="_blank">18929906</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2181)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37759679">A Comprehensive Update on Late-Onset Pompe Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Labella B,
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Cotti Piccinelli S,
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Risi B,
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Caria F,
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Bertella E,
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Padovani A,
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<span class="medgenPMjournal">Biomolecules</span>
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2023 Aug 22;13(9)
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<span class="bold">PMID: </span><a href="/pubmed/37759679" target="_blank">37759679</a><a href="/pmc/articles/PMC10526932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/33554498">Advances in diagnosis and management of Pompe disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Davison JE</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/18929906">Pompe's disease.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/18929906" target="_blank">18929906</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4103400">The hepatic glycogenoses.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/4103400" target="_blank">4103400</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1084)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37679331">Glycogen storage diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hannah WB,
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Derks TGJ,
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Drumm ML,
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Grünert SC,
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Kishnani PS,
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Vissing J</span><br />
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<span class="medgenPMjournal">Nat Rev Dis Primers</span>
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<div class="nl"><a target="_blank" href="/pubmed/37476587">Glycogen storage diseases: An update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
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Özen H</span><br />
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<span class="medgenPMjournal">World J Gastroenterol</span>
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2023 Jul 7;29(25):3932-3963.
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doi: 10.3748/wjg.v29.i25.3932.
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<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32962155">Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meena NK,
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Raben N</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
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2020 Sep 18;10(9)
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doi: 10.3390/biom10091339.
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<span class="bold">PMID: </span><a href="/pubmed/32962155" target="_blank">32962155</a><a href="/pmc/articles/PMC7564159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/18929906">Pompe's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Ploeg AT,
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Reuser AJ</span><br />
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<span class="medgenPMjournal">Lancet</span>
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2008 Oct 11;372(9646):1342-53.
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doi: 10.1016/S0140-6736(08)61555-X.
|
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<span class="bold">PMID: </span><a href="/pubmed/18929906" target="_blank">18929906</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/6763342">Glycogen storage disease.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (856)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31342611">GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reuser AJJ,
|
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van der Ploeg AT,
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Chien YH,
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Llerena J Jr,
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Abbott MA,
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Clemens PR,
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Kimonis VE,
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Leslie N,
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Maruti SS,
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Sanson BJ,
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Araujo R,
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Periquet M,
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Toscano A,
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Kishnani PS,
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On Behalf Of The Pompe Registry Sites</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2019 Nov;40(11):2146-2164.
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Epub 2019 Aug 7
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doi: 10.1002/humu.23878.
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<span class="bold">PMID: </span><a href="/pubmed/31342611" target="_blank">31342611</a><a href="/pmc/articles/PMC6852536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22173792">Consensus treatment recommendations for late-onset Pompe disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cupler EJ,
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Berger KI,
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Leshner RT,
|
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Wolfe GI,
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Han JJ,
|
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Barohn RJ,
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Kissel JT;
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AANEM Consensus Committee on Late-onset Pompe Disease</span><br />
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<span class="medgenPMjournal">Muscle Nerve</span>
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2012 Mar;45(3):319-33.
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Epub 2011 Dec 15
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<span class="bold">PMID: </span><a href="/pubmed/22173792" target="_blank">22173792</a><a href="/pmc/articles/PMC3534745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15535432">alpha-glucosidase (CHO) (Genzyme).</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12208096">Glucose-6-phosphate dehydrogenase deficiency: a potential source of severe neonatal hyperbilirubinaemia and kernicterus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan M,
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<span class="medgenPMjournal">Semin Neonatol</span>
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<div class="nl"><a target="_blank" href="/pubmed/1966881">Ground-glass hepatocytes: light and electron microscopy. Characterization of the different types.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vázquez JJ</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1005)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38635113">Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lava SAG,
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Laurence C,
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Di Deo A,
|
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Sekarski N,
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Burch M,
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Della Pasqua O</span><br />
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<span class="medgenPMjournal">Paediatr Drugs</span>
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||
2024 May;26(3):229-243.
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||
Epub 2024 Apr 18
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||
doi: 10.1007/s40272-024-00623-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38635113" target="_blank">38635113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37615591">Systematic literature review of the epidemiology of glycogen storage disease type 1a.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zelei T,
|
||
Kovács S,
|
||
Finn P,
|
||
Nagy D,
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||
Sikirica V,
|
||
Carlson KB,
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||
Vokó Z</span><br />
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2023 Sep 26;36(9):809-817.
|
||
Epub 2023 Aug 25
|
||
doi: 10.1515/jpem-2023-0127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37615591" target="_blank">37615591</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33386209">Cardiovascular disease in non-classic Pompe disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Kooten HA,
|
||
Roelen CHA,
|
||
Brusse E,
|
||
van der Beek NAME,
|
||
Michels M,
|
||
van der Ploeg AT,
|
||
Wagenmakers MAEM,
|
||
van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
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||
2021 Feb;31(2):79-90.
|
||
Epub 2020 Nov 9
|
||
doi: 10.1016/j.nmd.2020.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33386209" target="_blank">33386209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31405600">Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benz K,
|
||
Hahn P,
|
||
Hanisch M,
|
||
Lücke K,
|
||
Lücke T,
|
||
Jackowski J</span><br />
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||
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
|
||
2019 Nov;57(9):831-838.
|
||
Epub 2019 Aug 9
|
||
doi: 10.1016/j.bjoms.2019.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31405600" target="_blank">31405600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22173792">Consensus treatment recommendations for late-onset Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cupler EJ,
|
||
Berger KI,
|
||
Leshner RT,
|
||
Wolfe GI,
|
||
Han JJ,
|
||
Barohn RJ,
|
||
Kissel JT;
|
||
AANEM Consensus Committee on Late-onset Pompe Disease</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2012 Mar;45(3):319-33.
|
||
Epub 2011 Dec 15
|
||
doi: 10.1002/mus.22329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22173792" target="_blank">22173792</a><a href="/pmc/articles/PMC3534745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
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|
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|
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|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017919%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017919%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017919%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017919%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS232200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79201" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glycogen%20storage%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Glycogen%20storage%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx">ACMG ACT, 2011</a><div>American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</div></li></ul></div>
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