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Article

A neonatal form of glycogen storage disease type IV.

Neurology - 12 Aug 2003

Nambu M, Kawabe K, Fukuda T, Okuno T B, Ohta S, Nonaka I, Sugie H, Nishino I

Abstract excerpt

We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly re...

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Source

Identifiers

PMID: 12913206
DOI: 10.1212/01.wnl.0000073141.61695.b3

Genes

GBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12913206-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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