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<meta name="keywords" content="C0017925, disease or syndrome, disease, hers, disease, hers', glycogen storage disease 6, glycogen storage disease caused by mutation in pygl, glycogen storage disease due to liver glycogen phosphorylase deficiency, glycogen storage disease type 6, glycogen storage disease type 6, due to phosphorylation, glycogen storage disease type vi, glycogen storage disease vi, glycogen storage disease, type vi, glycogenosis 6, glycogenosis due to liver glycogen phosphorylase deficiency, glycogenosis type 6, glycogenosis type vi, glycogenosis vi, gsd 6, gsd due to liver glycogen phosphorylase deficiency, gsd type 6, gsd type vi, gsd vi, gsd6, hepatic glycogen phosphorylase deficiency, hepatic phosphorylase deficiency, hepatophosphorylase deficiency glycogenosis, her disease, hers disease, hers' disease, liver glycogen phosphorylase deficiency, liver phosphorylase deficiency syndrome, phosphorylase deficiency glycogen-storage disease of liver, pygl, pygl glycogen storage disease, type vi, glycogenosis, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=6643
|
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ConceptID=C0017925
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease, type VI<span class="h1sub">(GSD6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6643</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."><span class="highlight" style="background-color:">C0017925</span></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>Glycogen storage disease type 6; Glycogen storage disease type 6, due to phosphorylation; GSD VI; GSD6; Hepatic glycogen phosphorylase deficiency; HERS DISEASE; PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Glycogen storage disease, type VI (29291001); Hepatic phosphorylase deficiency (29291001); Hers disease (29291001); GSD VI (29291001); Hepatic glycogen phosphorylase deficiency (29291001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PYGL - ID: 5836 - NCBI Gene" href="/gene/5836" class="medgenPMinfo">PYGL</a> (14q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009294" target="_blank">MONDO:0009294</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/232700" target="_blank">232700</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=369">ORPHA369</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>
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK5941" target="_blank">Glycogen Storage Disease Type VI</a></div><div>Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK5941#gsd6.Summary" target="NBK5941">Summary</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Diagnosis" target="NBK5941">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Clinical_Characteristics" target="NBK5941">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Genetically_Related_Allelic_Disorde" target="NBK5941">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Differential_Diagnosis" target="NBK5941">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Management" target="NBK5941">Management</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Genetic_Counseling" target="NBK5941">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Resources" target="NBK5941">Resources</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Molecular_Genetics" target="NBK5941">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.Chapter_Notes" target="NBK5941">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK5941#gsd6.References" target="NBK5941">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Emma Labrador | David A Weinstein <a href="/books/NBK5941" target="NBK5941" title="NCBI Bookshelf: Glycogen Storage Disease Type VI">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.<br /><br />The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Children with GSDVI tend to grow slower than their peers, but they often achieve normal height as adults. Some affected children also have mild delays in the development of motor skills, such as sitting, standing, or walking.<br /><br />The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems. <a target="_blank" href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi">https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow or limited growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358083"><div><strong>Failure to thrive in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358083</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.">C1867873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358083">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%20in%20infancy%22%5BClinical%20Features%5D%20OR%20358083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344698"><div><strong>Increased hepatic glycogen content</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344698</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.">C1856285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the amount of glycogen stored in hepatocytes compared to normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344698">Feature record</a> | <a href="/medgen?term=%22Increased%20hepatic%20glycogen%20content%22%5BClinical%20Features%5D%20OR%20344698%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5687"><div><strong>Hypercholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5687</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.">C0020443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5687">Feature record</a> | <a href="/medgen?term=%22Hypercholesterolemia%22%5BClinical%20Features%5D%20OR%205687%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5692"><div><strong>Hyperlipidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5692</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.">C0020473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated lipid concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5692">Feature record</a> | <a href="/medgen?term=%22Hyperlipidemia%22%5BClinical%20Features%5D%20OR%205692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1053464"><div><strong>Reduced hepatic glycogen phosphorylase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1053464</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1053464">Feature record</a> | <a href="/medgen?term=%22Reduced%20hepatic%20glycogen%20phosphorylase%20activity%22%5BClinical%20Features%5D%20OR%201053464%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipidemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1053464" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced hepatic glycogen phosphorylase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased hepatic glycogen content</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</a></span></li></ul></li></ul></div></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=C0017925[DISCUI]&test_type=Clinical" ref="ncbi_uid=6643">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0017925[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=6643">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6643" target="_blank" href="/omim/232700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5941/" ref="ncbi_uid=6643">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6643" ref="ncbi_uid=6643">V</a></span></span><span class="TLline">Glycogen storage disease, type VI</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span><ul><li><span class="matched_ds">Glycogen storage disease, type VI</span></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=18&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glycogen storage disease, type VI</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/35143115">Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo X,
|
||
Duan Y,
|
||
Fang D,
|
||
Sun Y,
|
||
Xiao B,
|
||
Zhang H,
|
||
Han L,
|
||
Liang L,
|
||
Gong Z,
|
||
Gu X,
|
||
Yu Y,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2022 May;43(5):557-567.
|
||
Epub 2022 Feb 24
|
||
doi: 10.1002/humu.24345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35143115" target="_blank">35143115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30659246">Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
||
Goldstein J,
|
||
Austin SL,
|
||
Arn P,
|
||
Bachrach B,
|
||
Bali DS,
|
||
Chung WK,
|
||
El-Gharbawy A,
|
||
Brown LM,
|
||
Kahler S,
|
||
Pendyal S,
|
||
Ross KM,
|
||
Tsilianidis L,
|
||
Weinstein DA,
|
||
Watson MS;
|
||
ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Apr;21(4):772-789.
|
||
Epub 2019 Jan 19
|
||
doi: 10.1038/s41436-018-0364-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30659246" target="_blank">30659246</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%2C%20type%20vi%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 (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35313948">Liver transplantation in glycogen storage disease: a single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beyzaei Z,
|
||
Shamsaeefar A,
|
||
Kazemi K,
|
||
Nikeghbalian S,
|
||
Bahador A,
|
||
Dehghani M,
|
||
Malekhosseini SA,
|
||
Geramizadeh B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Mar 21;17(1):127.
|
||
doi: 10.1186/s13023-022-02284-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35313948" target="_blank">35313948</a><a href="/pmc/articles/PMC8935097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892177">Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu SQ,
|
||
Feng JY,
|
||
Liu J,
|
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Xie XB,
|
||
Lu Y,
|
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Abuduxikuer K</span><br />
|
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
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2020 Sep 7;33(10):1321-1333.
|
||
doi: 10.1515/jpem-2020-0173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892177" target="_blank">32892177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31768638">Glycogen storage disease type VI: clinical course and molecular background.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aeppli TR,
|
||
Rymen D,
|
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Allegri G,
|
||
Bode PK,
|
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Häberle J</span><br />
|
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<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2020 Mar;179(3):405-413.
|
||
Epub 2019 Nov 26
|
||
doi: 10.1007/s00431-019-03499-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31768638" target="_blank">31768638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30659246">Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
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Goldstein J,
|
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Austin SL,
|
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Arn P,
|
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Bachrach B,
|
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Bali DS,
|
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Chung WK,
|
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El-Gharbawy A,
|
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Brown LM,
|
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Kahler S,
|
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Pendyal S,
|
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Ross KM,
|
||
Tsilianidis L,
|
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Weinstein DA,
|
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Watson MS;
|
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ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX</span><br />
|
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<span class="medgenPMjournal">Genet Med</span>
|
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2019 Apr;21(4):772-789.
|
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Epub 2019 Jan 19
|
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doi: 10.1038/s41436-018-0364-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/30659246" target="_blank">30659246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20723115">Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogawa A,
|
||
Ogawa E,
|
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Yamamoto S,
|
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Fukuda T,
|
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Sugie H,
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Kohno Y</span><br />
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<span class="medgenPMjournal">Pediatr Int</span>
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2010 Jun;52(3):e150-3.
|
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doi: 10.1111/j.1442-200X.2010.03073.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20723115" target="_blank">20723115</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35313948">Liver transplantation in glycogen storage disease: a single-center experience.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Beyzaei Z,
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Shamsaeefar A,
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Kazemi K,
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Nikeghbalian S,
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Bahador A,
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Dehghani M,
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Malekhosseini SA,
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Geramizadeh B</span><br />
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2022 Mar 21;17(1):127.
|
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doi: 10.1186/s13023-022-02284-y.
|
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<span class="bold">PMID: </span><a href="/pubmed/35313948" target="_blank">35313948</a><a href="/pmc/articles/PMC8935097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35143115">Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo X,
|
||
Duan Y,
|
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Fang D,
|
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Sun Y,
|
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Xiao B,
|
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Zhang H,
|
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Han L,
|
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Liang L,
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Gong Z,
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Gu X,
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Yu Y,
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Qiu W</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2022 May;43(5):557-567.
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Epub 2022 Feb 24
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doi: 10.1002/humu.24345.
|
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<span class="bold">PMID: </span><a href="/pubmed/35143115" target="_blank">35143115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35042526">Features of chinese patients with sitosterolemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
|
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Su X,
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Cai Y,
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Ting TH,
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Zhang W,
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Lin Y,
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Xu A,
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Mao X,
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Zeng C,
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Liu L,
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Li X</span><br />
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<span class="medgenPMjournal">Lipids Health Dis</span>
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2022 Jan 18;21(1):11.
|
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doi: 10.1186/s12944-021-01619-1.
|
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<span class="bold">PMID: </span><a href="/pubmed/35042526" target="_blank">35042526</a><a href="/pmc/articles/PMC8764812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34440378">The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
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Hannibal L,
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Spiekerkoetter U</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
|
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2021 Aug 3;12(8)
|
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doi: 10.3390/genes12081205.
|
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<span class="bold">PMID: </span><a href="/pubmed/34440378" target="_blank">34440378</a><a href="/pmc/articles/PMC8391619" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30659246">Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishnani PS,
|
||
Goldstein J,
|
||
Austin SL,
|
||
Arn P,
|
||
Bachrach B,
|
||
Bali DS,
|
||
Chung WK,
|
||
El-Gharbawy A,
|
||
Brown LM,
|
||
Kahler S,
|
||
Pendyal S,
|
||
Ross KM,
|
||
Tsilianidis L,
|
||
Weinstein DA,
|
||
Watson MS;
|
||
ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Apr;21(4):772-789.
|
||
Epub 2019 Jan 19
|
||
doi: 10.1038/s41436-018-0364-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30659246" target="_blank">30659246</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35042526">Features of chinese patients with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
|
||
Su X,
|
||
Cai Y,
|
||
Ting TH,
|
||
Zhang W,
|
||
Lin Y,
|
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Xu A,
|
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Mao X,
|
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Zeng C,
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Liu L,
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Li X</span><br />
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<span class="medgenPMjournal">Lipids Health Dis</span>
|
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2022 Jan 18;21(1):11.
|
||
doi: 10.1186/s12944-021-01619-1.
|
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<span class="bold">PMID: </span><a href="/pubmed/35042526" target="_blank">35042526</a><a href="/pmc/articles/PMC8764812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31768638">Glycogen storage disease type VI: clinical course and molecular background.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aeppli TR,
|
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Rymen D,
|
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Allegri G,
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Bode PK,
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Häberle J</span><br />
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<span class="medgenPMjournal">Eur J Pediatr</span>
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2020 Mar;179(3):405-413.
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Epub 2019 Nov 26
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doi: 10.1007/s00431-019-03499-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31768638" target="_blank">31768638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26001652">Hepatic glycogen storage disorders: what have we learned in recent years?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Burda P,
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Hochuli M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26001652" target="_blank">26001652</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/8245377">Nutrition therapy for hepatic glycogen storage diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg T,
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Slonim AE</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/8245377" target="_blank">8245377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3483883">Treatment with D-thyroxine of patients with glycogen storage diseases type VI and VIa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cabalska B,
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Zbieg-Sendecka E,
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Kobryń A,
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Pronicka E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35143115">Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo X,
|
||
Duan Y,
|
||
Fang D,
|
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Sun Y,
|
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Xiao B,
|
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Zhang H,
|
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Han L,
|
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Liang L,
|
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Gong Z,
|
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Gu X,
|
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Yu Y,
|
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Qiu W</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
|
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2022 May;43(5):557-567.
|
||
Epub 2022 Feb 24
|
||
doi: 10.1002/humu.24345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35143115" target="_blank">35143115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892177">Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu SQ,
|
||
Feng JY,
|
||
Liu J,
|
||
Xie XB,
|
||
Lu Y,
|
||
Abuduxikuer K</span><br />
|
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
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2020 Sep 7;33(10):1321-1333.
|
||
doi: 10.1515/jpem-2020-0173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892177" target="_blank">32892177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31768638">Glycogen storage disease type VI: clinical course and molecular background.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aeppli TR,
|
||
Rymen D,
|
||
Allegri G,
|
||
Bode PK,
|
||
Häberle J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2020 Mar;179(3):405-413.
|
||
Epub 2019 Nov 26
|
||
doi: 10.1007/s00431-019-03499-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31768638" target="_blank">31768638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26001652">Hepatic glycogen storage disorders: what have we learned in recent years?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burda P,
|
||
Hochuli M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Clin Nutr Metab Care</span>
|
||
2015 Jul;18(4):415-21.
|
||
doi: 10.1097/MCO.0000000000000181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26001652" target="_blank">26001652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20723115">Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogawa A,
|
||
Ogawa E,
|
||
Yamamoto S,
|
||
Fukuda T,
|
||
Sugie H,
|
||
Kohno Y</span><br />
|
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<span class="medgenPMjournal">Pediatr Int</span>
|
||
2010 Jun;52(3):e150-3.
|
||
doi: 10.1111/j.1442-200X.2010.03073.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20723115" target="_blank">20723115</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37264426">Clinical and genetic spectrum of GSD type 6 in Korea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn JW,
|
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Lee H,
|
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Seong MW,
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Kang GH,
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Moon JS,
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Ko JS</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2023 Jun 1;18(1):132.
|
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doi: 10.1186/s13023-023-02750-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37264426" target="_blank">37264426</a><a href="/pmc/articles/PMC10233917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35042526">Features of chinese patients with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
|
||
Su X,
|
||
Cai Y,
|
||
Ting TH,
|
||
Zhang W,
|
||
Lin Y,
|
||
Xu A,
|
||
Mao X,
|
||
Zeng C,
|
||
Liu L,
|
||
Li X</span><br />
|
||
<span class="medgenPMjournal">Lipids Health Dis</span>
|
||
2022 Jan 18;21(1):11.
|
||
doi: 10.1186/s12944-021-01619-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35042526" target="_blank">35042526</a><a href="/pmc/articles/PMC8764812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33879691">Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhan Q,
|
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Lv Z,
|
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Tang Q,
|
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Huang L,
|
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Chen X,
|
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Yang M,
|
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Lan L,
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Shan Q</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
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2021 Apr 23;100(16):e25520.
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doi: 10.1097/MD.0000000000025520.
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<span class="bold">PMID: </span><a href="/pubmed/33879691" target="_blank">33879691</a><a href="/pmc/articles/PMC8078372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505569">Liver histology in children with glycogen storage disorders type VI and IX.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Degrassi I,
|
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Deheragoda M,
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Creegen D,
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Mundy H,
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Mustafa A,
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Vara R,
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Hadzic N</span><br />
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<span class="medgenPMjournal">Dig Liver Dis</span>
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2021 Jan;53(1):86-93.
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Epub 2020 Jun 4
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doi: 10.1016/j.dld.2020.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505569" target="_blank">32505569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31768638">Glycogen storage disease type VI: clinical course and molecular background.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aeppli TR,
|
||
Rymen D,
|
||
Allegri G,
|
||
Bode PK,
|
||
Häberle J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2020 Mar;179(3):405-413.
|
||
Epub 2019 Nov 26
|
||
doi: 10.1007/s00431-019-03499-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31768638" target="_blank">31768638</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (18)</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/33054851">Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beyzaei Z,
|
||
Geramizadeh B,
|
||
Karimzadeh S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Oct 14;15(1):286.
|
||
doi: 10.1186/s13023-020-01573-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33054851" target="_blank">33054851</a><a href="/pmc/articles/PMC7557034" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%2C%20type%20VI%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017925%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017925%5bDISCUI%5d" target="_blank">See all (43)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=232700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=369" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glycogen%20storage%20disease,%20type%20VI" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glycogen%20storage%20disease%2C%20type%20vi%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%2C%20type%20VI%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></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613741" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5836[geneid]" target="_blank">View PYGL variations in ClinVar</a></li><li><a href="/nuccore/256985178" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=232700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Glycogen+Storage+Disease+Type+6/3126" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/glycogen_storage_disease_vi" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Glycogen%20storage%20disease,%20type%20VI" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6529/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301760" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Glycogen%20storage%20disease,%20type%20VI" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Glycogen%20storage%20disease,%20type%20VI%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=6643" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=6643" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017925[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017925[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017925[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=6643" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=6643" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=6643" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=6643" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=6643" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=6643" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=6643" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=6643" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca731ba68b6b5afc9e0b83">Glycogen storage disease, type VI</a>
|
||
<div class="ralinkpop offscreen_noflow">Glycogen storage disease, type VI<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca731a84f3725e59656acf">C0017925[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7319f4a390645e709b69">C0017924[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(1114)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C0017924[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca7318a68b6b5afc9dfad3">Glycogen storage disease, type V</a>
|
||
<div class="ralinkpop offscreen_noflow">Glycogen storage disease, type V<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca731784f3725e59655d90">C0017924[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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