Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.

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Title: Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
Authors: Koch RL; Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA., Akman HO; Department of Neurology Columbia University Irving Medical Center New York City New York USA., Chown E; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Goldman D; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Levenson J; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Lu Q; Department of Biostatistics University of Florida Gainesville Florida USA., Michalovicz Gill LT; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Morgan M; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Orthmann-Murphy JL; Department of Neurology University of Pennsylvania Philadelphia Pennsylvania USA., Pires NT; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Reef R; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Saxe H; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA., Singer-Berk M; Program in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA., Baxter S; Program in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA.
Source: JIMD reports [JIMD Rep] 2026 Apr 06; Vol. 67 (3), pp. e70080. Date of Electronic Publication: 2026 Apr 06 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
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  Data: <searchLink fieldCode="AU" term="%22Koch+RL%22">Koch RL</searchLink>; Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA.<br /><searchLink fieldCode="AU" term="%22Akman+HO%22">Akman HO</searchLink>; Department of Neurology Columbia University Irving Medical Center New York City New York USA.<br /><searchLink fieldCode="AU" term="%22Chown+E%22">Chown E</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Goldman+D%22">Goldman D</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Levenson+J%22">Levenson J</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Lu+Q%22">Lu Q</searchLink>; Department of Biostatistics University of Florida Gainesville Florida USA.<br /><searchLink fieldCode="AU" term="%22Michalovicz+Gill+LT%22">Michalovicz Gill LT</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Morgan+M%22">Morgan M</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Orthmann-Murphy+JL%22">Orthmann-Murphy JL</searchLink>; Department of Neurology University of Pennsylvania Philadelphia Pennsylvania USA.<br /><searchLink fieldCode="AU" term="%22Pires+NT%22">Pires NT</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Reef+R%22">Reef R</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Saxe+H%22">Saxe H</searchLink>; Adult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Program in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA.<br /><searchLink fieldCode="AU" term="%22Baxter+S%22">Baxter S</searchLink>; Program in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2026 Apr 06; Vol. 67 (3), pp. e70080. <i>Date of Electronic Publication: </i>2026 Apr 06 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
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