Molecular diagnosis of German patients with late-onset glycogen storage disease type II
✍ Scribed by P. R. Joshi; D. Gläser; S. Schmidt; M. Vorgerd; M. Winterholler; K. Eger; S. Zierz; M. Deschauer
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 105 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali
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