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Article

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2017

Yuan Shan, Jiang Jie, Zha Lu-Ting, Yang Zuo-Cheng

Abstract excerpt

Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case...

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Source

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Identifiers

PMID: 29046207
PMCID: PMC7389288

Genes

GAA

Variants

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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