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[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

Zhonghua yi xue za zhi - 2 Jul 2013

Liu Qi, Zhao Juan, Wang Zhao-xia, Zhang Wei, Yuan Yun

Abstract excerpt

OBJECTIVE: To explore the clinical features and acid alpha-glucosidase (GAA) gene mutations of Chinese patients with glycogen storage disease typeII(GSDII). METHODS: Seven patients with GSDII were diagnosed by muscle pathology examination at Department of Neurology, Peking University First Hospital from 2003 to 2011. One patient with infant-onset presented development retardation, generalized muscle weakness,...

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Identifiers

PMID: 24169249

Genes

GAA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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