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Article

[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2003

Qiu Zheng-qing, Wei Min, Liu Ge, Liu Guo-yang

Abstract excerpt

UNLABELLED: Glycogen storage disease (GSD) type Ia is an autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase (G6Pase). The gene that encodes G6Pase was mapped to 17q21. The molecular genetic basis of GSD type Ia in the mainland Chinese population has not been explored. OBJECTIVE: To analyze the G6Pase gene mutations, and to compare the phenotypic features and the response to the corn...

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PMID: 14754525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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