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Article

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Journal of inherited metabolic disease - 1 May 2021

Souza Paulo Victor Sgobbi, Badia Bruno Mattos Lombardi, Farias Igor Braga, Pinto Wladimir Bocca Vieira de Rezende, Oliveira Acary Souza Bulle, Akman Hasan Orhan, DiMauro Salvatore

Abstract excerpt

Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and secondary storage of glycogen in the form of polyglucosan bodies, involving the skeletal muscle, diaphragm, peripheral nerve (including autonomic fibers), brain white...

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Identifiers

PMID: 33141444
DOI: 10.1002/jimd.12325

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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