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[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].

Zhonghua yi xue za zhi - 2 Mar 2010

Meng Yan, Zhang Wei-Min, Shi Hui-Ping, Wei Min, Huang Shang-Zhi

Abstract excerpt

OBJECTIVE: To investigate the clinical manifestations and to characterize mutations of the GLA gene in Chinese patients with Fabry disease so to enhance the diagnosis of Fabry disease. METHODS: Sixteen Chinese affected males (from 16 unrelated families) with the classic phenotype of Fabry disease were investigated. The patients were diagnosed by a deficiency of alpha-galactosidase A (alpha-Gal A) activity. All...

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Identifiers

PMID: 20367968

Genes

GLA

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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