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Diagnosis of a novel glycogen storage disease: Type 1aSP

โœ Scribed by A. Burchell; I. D. Waddell


Publisher
Springer
Year
1990
Tongue
English
Weight
266 KB
Volume
13
Category
Article
ISSN
0141-8955

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๐Ÿ“œ SIMILAR VOLUMES


MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
โœ YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 1 views

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

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D
โœ LEE-JUN C. WONG ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 361 KB ๐Ÿ‘ 1 views

Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb