Prenatal diagnosis of glycogen storage disorder type III
β Scribed by J. Sujatha; I. V. Amithkumar; B. Lathaa
- Book ID
- 107697519
- Publisher
- Indian Academy of Pediatrics
- Year
- 2010
- Tongue
- English
- Weight
- 353 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0019-6061
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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
Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult and have limited ability to distinguish a carrier from an affected patie
Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive condition, caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase) activity. In a consanguineous family originating from northern Africa whose first daughter was affected with GSD Ia, we were able to identify the disease-ca