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Article

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Molecular genetics and metabolism - 1 Jan 2000

Shaiu W L, Kishnani P S, Shen J, Liu H M, Chen Y T

Abstract excerpt

Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-specific retention of AGL activity results in GSD-IIIb. To date, no common mutation has been described among GSD-III patients, except for three alleles; two linked specifically with GSD-IIIb, and the third found only in North African Jews...

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Source

Identifiers

PMID: 10655153
DOI: 10.1006/mgme.1999.2953

Genes

AGL

Provenance

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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