Communicated by William S. Sly Gaucher disease is the most prevalent sphingolipidosis, characterized by genetic deficiency of lysosomal hydrolase glucocerebrosidase, and is inherited in an autosomal recessive manner. To characterize the molecular basis of Gaucher disease in Japan, we analyzed for th
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients
✍ Scribed by Hirokawa, Hidetetsu; Okano, Yoshiyuki; Asada, Minoru; Fujimoto, Akie; Suyama, Itsujin; Isshiki, Gen
- Book ID
- 110024870
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 289 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, and thromboembolism. We determined the molecular basis of CBS de
## Abstract Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (__FTL1__). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in