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

ABSTRACT Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”). GSD IV manifests across a spectrum of clinical dimensions—...

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Autores principales:	Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2026-05-01
Colección:	JIMD Reports
Materias:	adult polyglucosan body disease Andersen disease APBD GBE1 glycogen branching enzyme glycogen storage disease type IV
Acceso en línea:	https://doi.org/10.1002/jmd2.70080
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