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Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients

โœ Scribed by W. J. Qiu; X. F. Gu; J. Ye; L.Sh. Han; Y. F. Zhang; X. Q. Liu

Book ID
111574697
Publisher
Springer
Year
2003
Tongue
English
Weight
39 KB
Volume
26
Category
Article
ISSN
0141-8955

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Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p

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Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two differen