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

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

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 hypogly...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 3 vom: 17. März, Seite 203-8
1. Verfasser: Qiu, Zheng-qing (VerfasserIn)
Weitere Verfasser: Lu, Chao-xia, Wang, Wei, Qiu, Jia-jing, Wei, Min
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Research Support, Non-U.S. Gov't Antiporters Monosaccharide Transport Proteins SLC37A4 protein, human