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[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Mar 2011

Qiu Zheng-qing, Lu Chao-xia, Wang Wei, Qiu Jia-jing, Wei Min

Abstract excerpt

OBJECTIVE: Glycogen storage disease type Ib (GSDIb, MIM: 232220) is an autosomal recessive inborn error of metabolism caused by deficiency of the glucose-6-phosphate translocase. The clinical manifestations include symptoms and signs of both the typical GSDIa, including hepatomegaly, fasting hypoglycemia, lactic acidemia and hyperlipidemia, and the dysfunction of neutrophils of recurrent infection and...

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PMID: 21575371

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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