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Article

[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Oct 2007

Qiu Jia-Jing, Wei Min, Zhang Wei-Min, Shi Hui-Ping

Abstract excerpt

OBJECTIVE: Glycogen-storage disease type II (GSD II, Pompe's disease) is an autosomal recessive disorder caused by a functional deficiency of acid alpha-glucosidase (GAA) that leads to glycogen accumulation within lysosomes in most tissues. The GAA gene is located to human chromosome 17q25 and contains 20 exons, 19 of which are coding. Clinically, patients with the severe infantile form of GSD II have muscle...

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Source

Identifiers

PMID: 18211760

Genes

GAA

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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