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<!--
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||
UID=2825
|
||
ConceptID=C0007001
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn carbohydrate metabolic disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2825</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.">C0007001</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>Carbohydrate Metabolism, Inborn Error; Carbohydrate Metabolism, Inborn Errors</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019214" target="_blank">MONDO:0019214</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=79161">ORPHA79161</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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></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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/472889" ref="tree=GTR&ncbi_uid=472889&link_uid=472889" title="View MedGen record for 'Carbohydrate metabolism disease'">Carbohydrate metabolism disease</a></span><ul><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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/541226" ref="tree=GTR&ncbi_uid=541226&link_uid=541226" title="View MedGen record for 'Carbohydrate transport disease'">Carbohydrate transport disease</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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/575210" ref="tree=GTR&ncbi_uid=575210&link_uid=575210" title="View MedGen record for 'Glycerol metabolism disease'">Glycerol metabolism disease</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=C0007001[DISCUI]&test_type=Clinical" ref="ncbi_uid=2825">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Inborn carbohydrate metabolic disorder</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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/675093" ref="tree=GTR&ncbi_uid=675093&link_uid=675093" title="View MedGen record for 'Intestinal disaccharidase deficiency'">Intestinal disaccharidase deficiency</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/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="TLline"><a href="/medgen/472889" ref="tree=MeSH" title="MedGen record for Carbohydrate metabolism disease">Carbohydrate metabolism disease</a></span><ul><li><span class="matched_ds">Inborn carbohydrate metabolic disorder</span><ul><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/419308" ref="tree=MeSH" title="MedGen record for ALG1-congenital disorder of glycosylation">ALG1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462263" ref="tree=MeSH" title="MedGen record for ALG11-congenital disorder of glycosylation">ALG11-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443954" ref="tree=MeSH" title="MedGen record for ALG12-congenital disorder of glycosylation">ALG12-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/334618" ref="tree=MeSH" title="MedGen record for ALG2-congenital disorder of glycosylation">ALG2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322026" ref="tree=MeSH" title="MedGen record for ALG3-congenital disorder of glycosylation">ALG3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443952" ref="tree=MeSH" title="MedGen record for ALG6-congenital disorder of glycosylation 1C">ALG6-congenital disorder of glycosylation 1C</a></span></li><li><span class="TLline"><a href="/medgen/419692" ref="tree=MeSH" title="MedGen record for ALG8 congenital disorder of glycosylation">ALG8 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443955" ref="tree=MeSH" title="MedGen record for ALG9 congenital disorder of glycosylation">ALG9 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419310" ref="tree=MeSH" title="MedGen record for B4GALT1-congenital disorder of glycosylation">B4GALT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443957" ref="tree=MeSH" title="MedGen record for COG1 congenital disorder of glycosylation">COG1 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/929221" ref="tree=MeSH" title="MedGen record for COG4-congenital disorder of glycosylation">COG4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462226" ref="tree=MeSH" title="MedGen record for COG5-congenital disorder of glycosylation">COG5-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/766144" ref="tree=MeSH" title="MedGen record for COG6-congenital disorder of glycosylation">COG6-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/409971" ref="tree=MeSH" title="MedGen record for COG8-congenital disorder of glycosylation">COG8-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/815321" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation">Congenital disorder of deglycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/989503" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 1">Congenital disorder of deglycosylation 1</a></span></li><li><span class="TLline"><a href="/medgen/1809253" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation 2">Congenital disorder of deglycosylation 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324784" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation type 1E">Congenital disorder of glycosylation type 1E</a></span></li><li><span class="TLline"><a href="/medgen/1682844" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with intellectual disability and severe epilepsy">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/1382656" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 36">Developmental and epileptic encephalopathy, 36</a></span></li><li><span class="TLline"><a href="/medgen/332072" ref="tree=MeSH" title="MedGen record for DK1-congenital disorder of glycosylation">DK1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419694" ref="tree=MeSH" title="MedGen record for DPAGT1-congenital disorder of glycosylation">DPAGT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414534" ref="tree=MeSH" title="MedGen record for DPM3-congenital disorder of glycosylation">DPM3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li><li><span class="TLline"><a href="/medgen/443956" ref="tree=MeSH" title="MedGen record for MGAT2-congenital disorder of glycosylation">MGAT2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/342954" ref="tree=MeSH" title="MedGen record for MOGS-congenital disorder of glycosylation">MOGS-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322968" ref="tree=MeSH" title="MedGen record for MPDU1-congenital disorder of glycosylation">MPDU1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/400692" ref="tree=MeSH" title="MedGen record for MPI-congenital disorder of glycosylation">MPI-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/138111" ref="tree=MeSH" title="MedGen record for PMM2-congenital disorder of glycosylation">PMM2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/383145" ref="tree=MeSH" title="MedGen record for RFT1-congenital disorder of glycosylation">RFT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/370234" ref="tree=MeSH" title="MedGen record for SLC35A1-congenital disorder of glycosylation">SLC35A1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1392124" ref="tree=MeSH" title="MedGen record for SRD5A3-congenital disorder of glycosylation">SRD5A3-congenital disorder of glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8922" ref="tree=MeSH" title="MedGen record for Fructose Metabolism, Inborn Errors">Fructose Metabolism, Inborn Errors</a></span><ul><li><span class="TLline"><a href="/medgen/42106" ref="tree=MeSH" title="MedGen record for Fructose-biphosphatase deficiency">Fructose-biphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5288" ref="tree=MeSH" title="MedGen record for Fucosidosis">Fucosidosis</a></span></li><li><span class="TLline"><a href="/medgen/473706" ref="tree=MeSH" title="MedGen record for G6PD deficiency">G6PD deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/4667" ref="tree=MeSH" title="MedGen record for Favism">Favism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/1718159" ref="tree=MeSH" title="MedGen record for Galactosemia 4">Galactosemia 4</a></span></li><li><span class="TLline"><a href="/medgen/443018" ref="tree=MeSH" title="MedGen record for Transferase Deficiency Galactosemia">Transferase Deficiency Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/199598" ref="tree=MeSH" title="MedGen record for UDPglucose-4-epimerase deficiency">UDPglucose-4-epimerase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/657805" ref="tree=MeSH" title="MedGen record for Erythrocyte galactose epimerase deficiency">Erythrocyte galactose epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/657804" ref="tree=MeSH" title="MedGen record for Generalized galactose epimerase deficiency">Generalized galactose epimerase deficiency</a></span></li></ul></li></ul></li><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="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/501176" ref="tree=MeSH" title="MedGen record for Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468559" ref="tree=MeSH" title="MedGen record for Glycogen phosphorylase kinase deficiency">Glycogen phosphorylase kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/453209" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to liver phosphorylase kinase deficiency">Glycogen storage disease due to liver phosphorylase kinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/854172" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXa1">Glycogen storage disease IXa1</a></span></li><li><span class="TLline"><a href="/medgen/107772" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXb">Glycogen storage disease IXb</a></span></li><li><span class="TLline"><a href="/medgen/442778" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXc">Glycogen storage disease IXc</a></span></li><li><span class="TLline"><a href="/medgen/335112" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXd">Glycogen storage disease IXd</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1805539" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase deficiency">Glycogen storage disease due to lactate dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/481534" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</a></span></li><li><span class="TLline"><a href="/medgen/419152" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/442873" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to muscle beta-enolase deficiency">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6641" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type III">Glycogen storage disease type III</a></span><ul><li><span class="TLline"><a href="/medgen/369842" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIa">Glycogen storage disease IIIa</a></span></li><li><span class="TLline"><a href="/medgen/369843" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIb">Glycogen storage disease IIIb</a></span></li><li><span class="TLline"><a href="/medgen/369844" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIc">Glycogen storage disease IIIc</a></span></li><li><span class="TLline"><a href="/medgen/369845" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIId">Glycogen storage disease IIId</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42261" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type VIII">Glycogen storage disease type VIII</a></span></li><li><span class="TLline"><a href="/medgen/120613" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type X">Glycogen storage disease type X</a></span></li><li><span class="TLline"><a href="/medgen/462104" ref="tree=MeSH" title="MedGen record for Glycogen storage disease XV">Glycogen storage disease XV</a></span></li><li><span class="TLline"><a href="/medgen/6640" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type I">Glycogen storage disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/78644" ref="tree=MeSH" title="MedGen record for Glucose-6-phosphate transport defect">Glucose-6-phosphate transport defect</a></span></li><li><span class="TLline"><a href="/medgen/415885" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li><li><span class="TLline"><a href="/medgen/87455" ref="tree=MeSH" title="MedGen record for Phosphate transport defect">Phosphate transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span><ul><li><span class="TLline"><a href="/medgen/923868" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, infantile onset">Glycogen storage disease due to acid maltase deficiency, infantile onset</a></span></li><li><span class="TLline"><a href="/medgen/575206" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, late-onset">Glycogen storage disease due to acid maltase deficiency, late-onset</a></span></li><li><span class="TLline"><a href="/medgen/148252" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type II, infantile">Glycogen storage disease type II, infantile</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6642" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type IV">Glycogen storage disease, type IV</a></span><ul><li><span class="TLline"><a href="/medgen/342338" ref="tree=MeSH" title="MedGen record for Adult polyglucosan body disease">Adult polyglucosan body disease</a></span></li><li><span class="TLline"><a href="/medgen/343525" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/1842442" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/343524" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/343523" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/383883" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/344701" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</a></span></li><li><span class="TLline"><a href="/medgen/1826169" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5341" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type V">Glycogen storage disease, type V</a></span></li><li><span class="TLline"><a href="/medgen/6643" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VI">Glycogen storage disease, type VI</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/82895" ref="tree=MeSH" title="MedGen record for HNSHA due to aldolase A deficiency">HNSHA due to aldolase A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337919" ref="tree=MeSH" title="MedGen record for Lethal congenital glycogen storage disease of heart">Lethal congenital glycogen storage disease of heart</a></span></li><li><span class="TLline"><a href="/medgen/863042" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 1">Polyglucosan body myopathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/865668" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 with immunodeficiency">Polyglucosan body myopathy 1 with immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/865669" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 without immunodeficiency">Polyglucosan body myopathy 1 without immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863889" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 2">Polyglucosan body myopathy type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19612" ref="tree=MeSH" title="MedGen record for Inborn error of pyruvate metabolism">Inborn error of pyruvate metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/44095" ref="tree=MeSH" title="MedGen record for Leigh disease">Leigh disease</a></span></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1842785" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, benign type">Pyruvate carboxylase deficiency, benign type</a></span></li><li><span class="TLline"><a href="/medgen/1842180" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, infantile form">Pyruvate carboxylase deficiency, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/1842956" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, severe neonatal type">Pyruvate carboxylase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6001" ref="tree=MeSH" title="MedGen record for Lactose intolerance">Lactose intolerance</a></span></li><li><span class="TLline"><a href="/medgen/226231" ref="tree=MeSH" title="MedGen record for Mannosidosis">Mannosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/888408" ref="tree=MeSH" title="MedGen record for Beta-D-mannosidosis">Beta-D-mannosidosis</a></span></li><li><span class="TLline"><a href="/medgen/7467" ref="tree=MeSH" title="MedGen record for Deficiency of alpha-mannosidase">Deficiency of alpha-mannosidase</a></span><ul><li><span class="TLline"><a href="/medgen/344488" ref="tree=MeSH" title="MedGen record for Alpha mannosidosis type II">Alpha mannosidosis type II</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/43809" ref="tree=MeSH" title="MedGen record for Deficiency of N-acetylglucosamine-1-phosphotransferase">Deficiency of N-acetylglucosamine-1-phosphotransferase</a></span></li><li><span class="TLline"><a href="/medgen/340743" ref="tree=MeSH" title="MedGen record for GNPTG-mucolipidosis">GNPTG-mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/435914" ref="tree=MeSH" title="MedGen record for Mucolipidosis type II">Mucolipidosis type II</a></span></li><li><span class="TLline"><a href="/medgen/896560" ref="tree=MeSH" title="MedGen record for Mucolipidosis Type IIIA">Mucolipidosis Type IIIA</a></span></li><li><span class="TLline"><a href="/medgen/68663" ref="tree=MeSH" title="MedGen record for Mucolipidosis type IV">Mucolipidosis type IV</a></span></li><li><span class="TLline"><a href="/medgen/120621" ref="tree=MeSH" title="MedGen record for Sialidosis">Sialidosis</a></span><ul><li><span class="TLline"><a href="/medgen/44174" ref="tree=MeSH" title="MedGen record for Sialidosis type 1">Sialidosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/924303" ref="tree=MeSH" title="MedGen record for Sialidosis type 2">Sialidosis type 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span><ul><li><span class="TLline"><a href="/medgen/226942" ref="tree=MeSH" title="MedGen record for Deficiency of hyaluronoglucosaminidase">Deficiency of hyaluronoglucosaminidase</a></span></li><li><span class="TLline"><a href="/medgen/44513" ref="tree=MeSH" title="MedGen record for Morquio syndrome">Morquio syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/43375" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-IV-A">Mucopolysaccharidosis, MPS-IV-A</a></span></li><li><span class="TLline"><a href="/medgen/43376" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-IV-B">Mucopolysaccharidosis, MPS-IV-B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44171" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 1">Mucopolysaccharidosis type 1</a></span><ul><li><span class="TLline"><a href="/medgen/39698" ref="tree=MeSH" title="MedGen record for Hurler syndrome">Hurler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88566" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-I-H/S">Mucopolysaccharidosis, MPS-I-H/S</a></span></li><li><span class="TLline"><a href="/medgen/6453" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-I-S">Mucopolysaccharidosis, MPS-I-S</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44514" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6">Mucopolysaccharidosis type 6</a></span><ul><li><span class="TLline"><a href="/medgen/1842485" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6, rapidly progressing">Mucopolysaccharidosis type 6, rapidly progressing</a></span></li><li><span class="TLline"><a href="/medgen/1842694" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6, slowly progressing">Mucopolysaccharidosis type 6, slowly progressing</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43108" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 7">Mucopolysaccharidosis type 7</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span><ul><li><span class="TLline"><a href="/medgen/1826165" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, attenuated form">Mucopolysaccharidosis type 2, attenuated form</a></span></li><li><span class="TLline"><a href="/medgen/575246" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, severe form">Mucopolysaccharidosis type 2, severe form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6452" ref="tree=MeSH" title="MedGen record for Sanfilippo syndrome">Sanfilippo syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/39264" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-A">Mucopolysaccharidosis, MPS-III-A</a></span></li><li><span class="TLline"><a href="/medgen/88601" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-B">Mucopolysaccharidosis, MPS-III-B</a></span></li><li><span class="TLline"><a href="/medgen/39477" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-C">Mucopolysaccharidosis, MPS-III-C</a></span></li><li><span class="TLline"><a href="/medgen/88602" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-III-D">Mucopolysaccharidosis, MPS-III-D</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/10119" ref="tree=MeSH" title="MedGen record for Multiple carboxylase deficiency">Multiple carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/66323" ref="tree=MeSH" title="MedGen record for Biotinidase deficiency">Biotinidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120653" ref="tree=MeSH" title="MedGen record for Holocarboxylase synthetase deficiency">Holocarboxylase synthetase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/462228" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria type 3">Primary hyperoxaluria type 3</a></span></li><li><span class="TLline"><a href="/medgen/75658" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type I">Primary hyperoxaluria, type I</a></span></li><li><span class="TLline"><a href="/medgen/120616" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type II">Primary hyperoxaluria, type II</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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/35883524">Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Succoio M,
|
||
Sacchettini R,
|
||
Rossi A,
|
||
Parenti G,
|
||
Ruoppolo M</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 Jul 11;12(7)
|
||
doi: 10.3390/biom12070968.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35883524" target="_blank">35883524</a><a href="/pmc/articles/PMC9313126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27858262">International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welling L,
|
||
Bernstein LE,
|
||
Berry GT,
|
||
Burlina AB,
|
||
Eyskens F,
|
||
Gautschi M,
|
||
Grünewald S,
|
||
Gubbels CS,
|
||
Knerr I,
|
||
Labrune P,
|
||
van der Lee JH,
|
||
MacDonald A,
|
||
Murphy E,
|
||
Portnoi PA,
|
||
Õunap K,
|
||
Potter NL,
|
||
Rubio-Gozalbo ME,
|
||
Spencer JB,
|
||
Timmers I,
|
||
Treacy EP,
|
||
Van Calcar SC,
|
||
Waisbren SE,
|
||
Bosch AM;
|
||
Galactosemia Network (GalNet)</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Mar;40(2):171-176.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1007/s10545-016-9990-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27858262" target="_blank">27858262</a><a href="/pmc/articles/PMC5306419" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25115486">X-linked adrenoleukodystrophy: pathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen M,
|
||
Kemp S,
|
||
Poll-The BT</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2014 Oct;14(10):486.
|
||
doi: 10.1007/s11910-014-0486-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25115486" target="_blank">25115486</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20carbohydrate%20metabolic%20disorder)%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 (179)</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/37476587">Glycogen storage diseases: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
|
||
Özen H</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jul 7;29(25):3932-3963.
|
||
doi: 10.3748/wjg.v29.i25.3932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29926406">Ganglioside Metabolism and Its Inherited Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breiden B,
|
||
Sandhoff K</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2018;1804:97-141.
|
||
doi: 10.1007/978-1-4939-8552-4_5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29926406" target="_blank">29926406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27858262">International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welling L,
|
||
Bernstein LE,
|
||
Berry GT,
|
||
Burlina AB,
|
||
Eyskens F,
|
||
Gautschi M,
|
||
Grünewald S,
|
||
Gubbels CS,
|
||
Knerr I,
|
||
Labrune P,
|
||
van der Lee JH,
|
||
MacDonald A,
|
||
Murphy E,
|
||
Portnoi PA,
|
||
Õunap K,
|
||
Potter NL,
|
||
Rubio-Gozalbo ME,
|
||
Spencer JB,
|
||
Timmers I,
|
||
Treacy EP,
|
||
Van Calcar SC,
|
||
Waisbren SE,
|
||
Bosch AM;
|
||
Galactosemia Network (GalNet)</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Mar;40(2):171-176.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1007/s10545-016-9990-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27858262" target="_blank">27858262</a><a href="/pmc/articles/PMC5306419" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4885929">Disaccharidase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayless TM,
|
||
Christopher NL</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Nutr</span>
|
||
1969 Feb;22(2):181-90.
|
||
doi: 10.1093/ajcn/22.2.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4885929" target="_blank">4885929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%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 (670)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37476587">Glycogen storage diseases: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
|
||
Özen H</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jul 7;29(25):3932-3963.
|
||
doi: 10.3748/wjg.v29.i25.3932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36615667">The Importance of Neonatal Screening for Galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badiu Tișa I,
|
||
Achim AC,
|
||
Cozma-Petruț A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Dec 20;15(1)
|
||
doi: 10.3390/nu15010010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36615667" target="_blank">36615667</a><a href="/pmc/articles/PMC9823668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26715083">Lactose intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandenplas Y</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Clin Nutr</span>
|
||
2015;24 Suppl 1:S9-13.
|
||
doi: 10.6133/apjcn.2015.24.s1.02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26715083" target="_blank">26715083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4239547">Pycnodysostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dodge JA</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1969 Feb;11(1):103-4.
|
||
doi: 10.1111/j.1469-8749.1969.tb01401.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4239547" target="_blank">4239547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1475)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210074">Sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Kojima N,
|
||
Takamura M,
|
||
Kawashiri MA</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;110:145-169.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1016/bs.acc.2022.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210074" target="_blank">36210074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32867370">GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
|
||
Benincore-Flórez E,
|
||
Solano-Galarza D,
|
||
Garzón Jaramillo RG,
|
||
Echeverri-Peña OY,
|
||
Suarez DA,
|
||
Alméciga-Díaz CJ,
|
||
Espejo-Mojica AJ</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Aug 27;21(17)
|
||
doi: 10.3390/ijms21176213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32867370" target="_blank">32867370</a><a href="/pmc/articles/PMC7503724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31282987">Hereditary phytosterolaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harper K,
|
||
Bagot CN,
|
||
Leach M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(2):137.
|
||
Epub 2019 Jul 8
|
||
doi: 10.1111/bjh.16076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31282987" target="_blank">31282987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30033951">Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Nohara A,
|
||
Inazu A,
|
||
Sakuma N,
|
||
Mabuchi H,
|
||
Kawashiri MA</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2018 Sep 1;25(9):783-789.
|
||
Epub 2018 Jul 20
|
||
doi: 10.5551/jat.RV17024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30033951" target="_blank">30033951</a><a href="/pmc/articles/PMC6143779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26715083">Lactose intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandenplas Y</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Clin Nutr</span>
|
||
2015;24 Suppl 1:S9-13.
|
||
doi: 10.6133/apjcn.2015.24.s1.02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26715083" target="_blank">26715083</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (709)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37476587">Glycogen storage diseases: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gümüş E,
|
||
Özen H</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Jul 7;29(25):3932-3963.
|
||
doi: 10.3748/wjg.v29.i25.3932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37476587" target="_blank">37476587</a><a href="/pmc/articles/PMC10354582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36615667">The Importance of Neonatal Screening for Galactosemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badiu Tișa I,
|
||
Achim AC,
|
||
Cozma-Petruț A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2022 Dec 20;15(1)
|
||
doi: 10.3390/nu15010010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36615667" target="_blank">36615667</a><a href="/pmc/articles/PMC9823668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24847886">Crystal structure of the human glucose transporter GLUT1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng D,
|
||
Xu C,
|
||
Sun P,
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Wu J,
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2014 Jun 5;510(7503):121-5.
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doi: 10.1038/nature13306.
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<span class="bold">PMID: </span><a href="/pubmed/24847886" target="_blank">24847886</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8884571">Disorders of gluconeogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van den Berghe G</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (341)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38552449">Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bekri S,
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Bley A,
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Brown HA,
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Chanson C,
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2024 May;142(1):108436.
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Epub 2024 Mar 22
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doi: 10.1016/j.ymgme.2024.108436.
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<span class="bold">PMID: </span><a href="/pubmed/38552449" target="_blank">38552449</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38338819">A Clinical Case of Probable Sitosterolemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Terasaki M,
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Izumi M,
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Yamagishi SI</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 Jan 26;25(3)
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|
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<div class="nl"><a target="_blank" href="/pubmed/34969652">Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
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Duan Y,
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Zheng W,
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Liang L,
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Zhang H,
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Luo X,
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Gu X,
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Sun Y,
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Xiao B,
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Qiu W</span><br />
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<span class="medgenPMjournal">J Clin Lipidol</span>
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2022 Jan-Feb;16(1):40-51.
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Epub 2021 Dec 6
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<span class="bold">PMID: </span><a href="/pubmed/34969652" target="_blank">34969652</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26978392">Diagnosing and Treating Intolerance to Carbohydrates in Children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berni Canani R,
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Pezzella V,
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Amoroso A,
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Cozzolino T,
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Passariello A</span><br />
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<span class="medgenPMjournal">Nutrients</span>
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2016 Mar 10;8(3):157.
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doi: 10.3390/nu8030157.
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<span class="bold">PMID: </span><a href="/pubmed/26978392" target="_blank">26978392</a><a href="/pmc/articles/PMC4808885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21709180">Golgi glycosylation and human inherited diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freeze HH,
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Ng BG</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Perspect Biol</span>
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<span class="bold">PMID: </span><a href="/pubmed/21709180" target="_blank">21709180</a><a href="/pmc/articles/PMC3181031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%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 (532)</a></div></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">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239976">Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conte F,
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Sam JE,
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||
Lefeber DJ,
|
||
Passier R</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
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||
2023 May 11;24(10)
|
||
doi: 10.3390/ijms24108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37239976" target="_blank">37239976</a><a href="/pmc/articles/PMC10218694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36436739">Psychiatric manifestations of inborn errors of metabolism: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Burgt N,
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van Doesum W,
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Grevink M,
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van Niele S,
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de Koning T,
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Leibold N,
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Martinez-Martinez P,
|
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van Amelsvoort T,
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Cath D</span><br />
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<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
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||
2023 Jan;144:104970.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1016/j.neubiorev.2022.104970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36436739" target="_blank">36436739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29218437">D-lactic acidosis in humans: systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianchetti DGAM,
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||
Amelio GS,
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||
Lava SAG,
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||
Bianchetti MG,
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||
Simonetti GD,
|
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Agostoni C,
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||
Fossali EF,
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||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2018 Apr;33(4):673-681.
|
||
Epub 2017 Dec 7
|
||
doi: 10.1007/s00467-017-3844-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29218437" target="_blank">29218437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27858262">International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welling L,
|
||
Bernstein LE,
|
||
Berry GT,
|
||
Burlina AB,
|
||
Eyskens F,
|
||
Gautschi M,
|
||
Grünewald S,
|
||
Gubbels CS,
|
||
Knerr I,
|
||
Labrune P,
|
||
van der Lee JH,
|
||
MacDonald A,
|
||
Murphy E,
|
||
Portnoi PA,
|
||
Õunap K,
|
||
Potter NL,
|
||
Rubio-Gozalbo ME,
|
||
Spencer JB,
|
||
Timmers I,
|
||
Treacy EP,
|
||
Van Calcar SC,
|
||
Waisbren SE,
|
||
Bosch AM;
|
||
Galactosemia Network (GalNet)</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Mar;40(2):171-176.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1007/s10545-016-9990-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27858262" target="_blank">27858262</a><a href="/pmc/articles/PMC5306419" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24413642">GLUT1 deficiency syndrome into adulthood: a follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leen WG,
|
||
Taher M,
|
||
Verbeek MM,
|
||
Kamsteeg EJ,
|
||
van de Warrenburg BP,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2014 Mar;261(3):589-99.
|
||
Epub 2014 Jan 12
|
||
doi: 10.1007/s00415-014-7240-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24413642" target="_blank">24413642</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20carbohydrate%20metabolic%20disorder%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 (20)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<li><a href="/gtr/tests?term=C0007001%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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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=(inborn%20carbohydrate%20metabolic%20disorder)%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></ul></div>
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<h3>Related information</h3>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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