𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Glycogen storage disease type Ia: Molecu
✍ Akanuma, Jun; Nishigaki, Toshinori; Fujii, Kunihiro; Matsubara, Yoichi; Inui, Ko πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 48 KB πŸ‘ 2 views

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

PRENATAL DIAGNOSIS IN A CHINESE FAMILY W
✍ WEN-JANE LEE; CHING-HWA YANG; ESTHER SHIH-CHU HO; AI SHIH; LIH-YUAN LIN; WEN-HAN πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 623 KB

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