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. |
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| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41948007 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti 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. – Name: Author Label: Authors Group: Au 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. – Name: TitleSource Label: Source Group: Src 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). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41948007 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jmd2.70080 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e70080 Titles: – TitleFull: 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. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Koch RL – PersonEntity: Name: NameFull: Akman HO – PersonEntity: Name: NameFull: Chown E – PersonEntity: Name: NameFull: Goldman D – PersonEntity: Name: NameFull: Levenson J – PersonEntity: Name: NameFull: Lu Q – PersonEntity: Name: NameFull: Michalovicz Gill LT – PersonEntity: Name: NameFull: Morgan M – PersonEntity: Name: NameFull: Orthmann-Murphy JL – PersonEntity: Name: NameFull: Pires NT – PersonEntity: Name: NameFull: Reef R – PersonEntity: Name: NameFull: Saxe H – PersonEntity: Name: NameFull: Singer-Berk M – PersonEntity: Name: NameFull: Baxter S IsPartOfRelationships: – BibEntity: Dates: – D: 06 M: 04 Text: 2026 Apr 06 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 2192-8304 Numbering: – Type: volume Value: 67 – Type: issue Value: 3 Titles: – TitleFull: JIMD reports Type: main |
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