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Glycogen storage disease type Ia: molecular study in Brazilian patients

โœ Scribed by F. de C. Reis; H. C. Caldas; D. Y. J. Norato; I. V. D. Schwartz; R. Giugliani; M. G. Burin; E. L. Sartorato


Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
59 KB
Volume
46
Category
Article
ISSN
1435-232X

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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

Genetic heterogeneity of glycogen storag
โœ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Albert Lind ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 14 KB ๐Ÿ‘ 1 views

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in th