Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
β Scribed by N. Shiroma; N. Kanazawa; M. Izumi; K. Sugai; M. Fukumizu; M. Sasaki; S. Hanaoka; M. Kaga; S. Tsujino
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 754 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1435-232X
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Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of glucose-6-phosphatase (G6Pase) that is expressed in the liver, kidney, and intestinal mucosa. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyper
Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two differen