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Article

Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

Human mutation - 1 Oct 2003

Lucchiari S, Donati M A, Melis D, Filocamo M, Parini R, Bresolin N, Comi G P

Abstract excerpt

Total or partial lack of glycogen debranching enzyme (GDE or AGL, amylo-1,6-glucosidase, 4-alpha-glucanotransferase) is responsible for Glycogen Storage Disease type III (GSDIII), a rare autosomal recessive disorder of glycogen metabolism. The clinical and biochemical features of GSDIII subjects...

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Identifiers

PMID: 12955720
DOI: 10.1002/humu.9177

Genes

AGL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12955720-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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