Article
The role of neurogenetics in Gaucher disease.
Archives of neurology - 1 Nov 1993
Brady R O, Barton N W, Grabowski G A
Abstract excerpt
Gaucher disease is the most prevalent hereditary metabolic storage disorder, and the most common genetic disease in individuals of Ashkenazic Jewish ancestry. Patients with Gaucher disease have been classified into three clinical phenotypes. Patients with type 1 disease exhibit markedly variable...
Topics
- Alleles
- Animals
- Animals, Genetically Modified
- Bone Marrow Transplantation
- Enzymes
- Gaucher Disease
- Genetic Therapy
- Glucosylceramidase
- Humans
- Mutation
- Nervous System Diseases