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<meta name="keywords" content="C0017922, agl, agl deficiency, agl glycogen storage disease, amylo 1,6 glucosidase deficiency, amylo-1,6-glucosidase deficiencies, amylo-1,6-glucosidase deficiency, cori disease, cori's disease, cori-forbes disease, coris disease, debrancher deficiencies, debrancher deficiencies, glycogen, debrancher deficiency, debrancher deficiency glycogen storage disease, debrancher deficiency, glycogen, debrancher enzyme deficiency, deficiencies, amylo-1,6-glucosidase, deficiencies, debrancher, deficiencies, glycogen debrancher, deficiency of debranching enzyme, deficiency of dextrin, deficiency, amylo-1,6-glucosidase, deficiency, debrancher, deficiency, glycogen debrancher, dextrinoses, limit, dextrinosis, limit, disease or syndrome, disease, cori, disease, cori's, disease, forbes, forbes disease, gde deficiency, glycogen debrancher deficiencies, glycogen debrancher deficiency, glycogen debranching enzyme deficiency, glycogen storage disease 3, glycogen storage disease caused by mutation in agl, glycogen storage disease due to glycogen debranching enzyme deficiency, glycogen storage disease iii, glycogen storage disease iiia, glycogen storage disease iiib, glycogen storage disease iiic, glycogen storage disease iiid, glycogen storage disease type 3, glycogen storage disease type iii, glycogen storage disease, type iii, glycogenosis 3, glycogenosis 3s, glycogenosis due to glycogen debranching enzyme deficiency, glycogenosis type 3, glycogenosis type iii, gsd due to glycogen debranching enzyme deficiency, gsd iii, gsd type 3, gsd3, gsdiii, limit dextrin - glycogen, limit dextrinoses, limit dextrinosis, 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 III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals. In infancy and early childhood, liver involvement presents as hepatomegaly and failure to thrive, with fasting ketotic hypoglycemia, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Most individuals develop cardiac involvement with cardiac hypertrophy and/or cardiomyopathy. Skeletal myopathy manifesting as weakness may be evident in childhood and slowly progresses, typically becoming prominent in the third to fourth decade. The overall prognosis is favorable but cannot be predicted on an individual basis. Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. To date, it is unknown if long-term complications can be alleviated and/or avoided by dietary interventions." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6641
|
||
ConceptID=C0017922
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease type III<span class="h1sub">(GSD3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6641</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.">C0017922</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>Amylo-1,6-glucosidase deficiency; Cori disease; FORBES DISEASE; Glycogen debrancher deficiency; Glycogen storage disease type 3; GSD3; Limit dextrinosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Glycogen storage disease, type III (66937008); Cori's disease (66937008); Amylo-1,6-glucosidase deficiency (66937008); Debrancher deficiency glycogen storage disease (66937008); Limit dextrinosis (66937008); GSD III (66937008); Glycogen storage disease type 3 (66937008); Cori disease (66937008); Debrancher enzyme deficiency (66937008); Limit dextrin - glycogen (66937008); Glycogen storage disease type III (66937008)</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="AGL - ID: 178 - NCBI Gene" href="/gene/178" class="medgenPMinfo">AGL</a> (1p21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009291" target="_blank">MONDO:0009291</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/232400" target="_blank">232400</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=366">ORPHA366</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_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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK26372" target="_blank">Glycogen Storage Disease Type III</a></div><div>Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals. In infancy and early childhood, liver involvement presents as hepatomegaly and failure to thrive, with fasting ketotic hypoglycemia, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Most individuals develop cardiac involvement with cardiac hypertrophy and/or cardiomyopathy. Skeletal myopathy manifesting as weakness may be evident in childhood and slowly progresses, typically becoming prominent in the third to fourth decade. The overall prognosis is favorable but cannot be predicted on an individual basis. Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. To date, it is unknown if long-term complications can be alleviated and/or avoided by dietary interventions. [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/NBK26372#gsd3.Summary" target="NBK26372">Summary</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.GeneReview_Scope" target="NBK26372">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Diagnosis" target="NBK26372">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Clinical_Characteristics" target="NBK26372">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Genetically_Related_Allelic_Disorde" target="NBK26372">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Differential_Diagnosis" target="NBK26372">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Management" target="NBK26372">Management</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Genetic_Counseling" target="NBK26372">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Resources" target="NBK26372">Resources</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Molecular_Genetics" target="NBK26372">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.Chapter_Notes" target="NBK26372">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK26372#gsd3.References" target="NBK26372">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Andrea B Schreuder | Alessandro Rossi | Sarah C Grünert<i>, et. al.</i> <a href="/books/NBK26372" target="NBK26372" title="NCBI Bookshelf: Glycogen Storage Disease Type III">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_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Glycogen storage disease III (GSD3) is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively (Van Hoof and Hers, 1967; Ding et al., 1990).
|
||
Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).
|
||
Lucchiari et al. (2007) provided a review of GSD III. <a target="_blank" href="http://www.omim.org/entry/232400">http://www.omim.org/entry/232400</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.<br /><br />GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.<br /><br />Beginning in infancy, individuals with any type of GSDIII may have low blood glucose (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.<br /><br />Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems. <a target="_blank" href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii">https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_87400"><div><strong>Ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87400</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.">C0340279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87400">Feature record</a> | <a href="/medgen?term=%22Ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2087400%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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<div class="spaceAbove">Abnormally increased size of the liver.</div>
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<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>
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||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10135"><div><strong>Myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10135</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.">C0026848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10135">Feature record</a> | <a href="/medgen?term=%22Myopathy%22%5BClinical%20Features%5D%20OR%2010135%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</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.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%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_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</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.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1863592"><div><strong>Reduced muscle glycogen debrancher enzyme activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863592</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.">C5937371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863592">Feature record</a> | <a href="/medgen?term=%22Reduced%20muscle%20glycogen%20debrancher%20enzyme%20activity%22%5BClinical%20Features%5D%20OR%201863592%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108294"><div><strong>Thin vermilion border</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108294</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.">C0578038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108294">Feature record</a> | <a href="/medgen?term=%22Thin%20vermilion%20border%22%5BClinical%20Features%5D%20OR%20108294%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</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.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin vermilion border</a></span></li></ul></li><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_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li><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_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_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_1863592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced muscle glycogen debrancher enzyme activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular hypertrophy</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_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li><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></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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="TLclosed"><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"><a href="/medgen/6639" ref="tree=GTR&ncbi_uid=6639&link_uid=6639" title="View MedGen record for 'Glycogen storage disease'">Glycogen storage disease</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=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="matched_ds"><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">Glycogen storage disease type III</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/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 III</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></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=21329&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glycogen storage disease type III</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/37488624">French recommendations for the management of glycogen storage disease type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wicker C,
|
||
Cano A,
|
||
Decostre V,
|
||
Froissart R,
|
||
Maillot F,
|
||
Perry A,
|
||
Petit F,
|
||
Voillot C,
|
||
Wahbi K,
|
||
Wenz J,
|
||
Laforêt P,
|
||
Labrune P</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2023 Jul 24;28(1):253.
|
||
doi: 10.1186/s40001-023-01212-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37488624" target="_blank">37488624</a><a href="/pmc/articles/PMC10364360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25164784">Dietary management in glycogen storage disease type III: what is the evidence?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derks TG,
|
||
Smit GP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 May;38(3):545-50.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1007/s10545-014-9756-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25164784" target="_blank">25164784</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%20type%20iii%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 (9)</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/23146612">Acute but transient neurological deterioration revealing adult polyglucosan body disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Billot S,
|
||
Hervé D,
|
||
Akman HO,
|
||
Froissart R,
|
||
Baussan C,
|
||
Claeys KG,
|
||
Piraud M,
|
||
Sedel F,
|
||
Mochel F,
|
||
Laforêt P</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2013 Jan 15;324(1-2):179-82.
|
||
Epub 2012 Nov 10
|
||
doi: 10.1016/j.jns.2012.10.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23146612" target="_blank">23146612</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 class="nl"><a target="_blank" href="/pubmed/16638043">Successful pregnancy in a woman with glycogen storage disease type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatti S,
|
||
Parry E</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Obstet Gynaecol</span>
|
||
2006 Apr;46(2):168-9.
|
||
doi: 10.1111/j.1479-828X.2006.00549.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16638043" target="_blank">16638043</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11378828">Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santer R,
|
||
Kinner M,
|
||
Steuerwald U,
|
||
Kjaergaard S,
|
||
Skovby F,
|
||
Simonsen H,
|
||
Shaiu WL,
|
||
Chen YT,
|
||
Schneppenheim R,
|
||
Schaub J</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2001 May;9(5):388-91.
|
||
doi: 10.1038/sj.ejhg.5200632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11378828" target="_blank">11378828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%20III%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 (69)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27106217">Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentner CP,
|
||
Hoogeveen IJ,
|
||
Weinstein DA,
|
||
Santer R,
|
||
Murphy E,
|
||
McKiernan PJ,
|
||
Steuerwald U,
|
||
Beauchamp NJ,
|
||
Taybert J,
|
||
Laforêt P,
|
||
Petit FM,
|
||
Hubert A,
|
||
Labrune P,
|
||
Smit GPA,
|
||
Derks TGJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2016 Sep;39(5):697-704.
|
||
Epub 2016 Apr 22
|
||
doi: 10.1007/s10545-016-9932-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27106217" target="_blank">27106217</a><a href="/pmc/articles/PMC4987401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21691223">Delayed diagnosis of glycogen storage disease type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minen F,
|
||
Cont G,
|
||
De Cunto A,
|
||
Martelossi S,
|
||
Ventura A,
|
||
Maggiore G,
|
||
Faletra F,
|
||
Gasparini P,
|
||
Cassandrini D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2012 Jan;54(1):122-4.
|
||
doi: 10.1097/MPG.0b013e318228d806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21691223" target="_blank">21691223</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,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/31319709">Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jauze L,
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Monteillet L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%20III%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 (63)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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||
<div class="portlet_content ln">
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beyzaei Z,
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Geramizadeh B,
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<div class="nl"><a target="_blank" href="/pubmed/32064649">Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
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Hoogeveen IJ,
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Bastek VB,
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de Boer F,
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Montanari C,
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Meyer U,
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Maiorana A,
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Bordugo A,
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Dianin A,
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Campana C,
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Rigoldi M,
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Kishnani PS,
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Pendyal S,
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Parenti G,
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Epub 2020 Feb 26
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<span class="bold">PMID: </span><a href="/pubmed/32064649" target="_blank">32064649</a><a href="/pmc/articles/PMC7383479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17196294">Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Demo E,
|
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Frush D,
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Gottfried M,
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Koepke J,
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Boney A,
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Bali D,
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Chen YT,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%20III%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
</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">
|
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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_content ln"><ul id="my-toc"></ul></div>
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|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&test_type=Research" target="_blank">Research (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (78)</a></li>
|
||
<li><a href="/gtr/tests?term=C0017922%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (22)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017922%5bDISCUI%5d" target="_blank">See all (92)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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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/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=232400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=366" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glycogen%20storage%20disease%20type%20III" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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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%20type%20iii%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%20type%20III%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>
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|
||
<div class="portlet mgSection" id="ID_115">
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<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=610860" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=178[geneid]" target="_blank">View AGL variations in ClinVar</a></li><li><a href="/nuccore/257743127" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=232400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Glycogen+Storage+Disease+Type+3/3123" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/glycogen_storage_disease_iii" 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%20III" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9442/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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|
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|
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<div class="portlet brieflink">
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<a href="/pubmed/20301788" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
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<a href="/pubmed?term=Glycogen%20storage%20disease%20type%20III%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=6641" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017922[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017922[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=6641" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=6641" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=6641" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d426ce67c23b31e0625038">Glycogen storage disease type III</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d426c6cde49f3df7818f22">Glycogen storage disease due to muscle beta-enolase deficiency</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d426c167c23b31e062013e">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d426b72f30673f7ba61627">Glycogen storage disease IXc</a>
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