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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ISSN:2192-8304
DOI:10.1002/jmd2.70080