Article
Glycogen storage disease type II in Israel.
Israel journal of medical sciences - 1 Jan 2000
Bashan N, Potashnik R, Barash V, Gutman A, Moses S W
Abstract excerpt
Eighteen patients with alpha-glucosidase deficiency have been diagnosed in Israel during the last 15 years. All patients were Palestinian Arabs, with the exception of two siblings from a Jewish Iraqi family. Clinically all patients had the infantile type (Pompe's disease), except one who had the juvenile type. Muscle glycogen content varied from 4 to 17% wet weight. Muscle alpha-glucosidase activity was zero in...
Topics
- Ethnicity
- Glucan 1,4-alpha-Glucosidase
- Glycogen Storage Disease
- Glycogen Storage Disease Type II
- Humans
- Israel
- Leukocytes
- Muscles
- Phenotype
- Prognosis
- alpha-Glucosidases
