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[Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2005

Zhuang Tai-feng, Qiu Zheng-qing, Wei Min, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: Type III glycogen storage disease (GSD-III, McKusick 232400), is a rare autosomal recessive disorder, also known as Cori's or Forbe's disease. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debrancher enzyme, GDE or amylogluco-sidase, AGL), which is responsible for the debranching of the glycogen molecule during catabolism. The AGL gene is located on chromosome 1p21...

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Identifiers

PMID: 15833157

Genes

AGL

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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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