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Article

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

European journal of pediatrics - 1 Jan 2015

Zheng Bi-Xia, Lin Qian, Li Mei, Jin Yu

Abstract excerpt

UNLABELLED: Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been identified as a cause of GSDIa. In this study, we performed mutation analysis in five Chinese GSDIa patients...

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Identifiers

PMID: 24980439
DOI: 10.1007/s00431-014-2354-y
PMCID: PMC4289013

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