Article
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
The American journal of the medical sciences - 1 May 1993
Frenkel E P
Abstract excerpt
Gaucher disease, the most common form of lysosomal storage disease, is the result of autosomal recessive inheritance of a lysosomal enzyme glucocerebrosidase deficiency, which produces defective hydrolysis of glucosylceramide that accumulates in reticuloendothelial (tissue macrophage) cells. The...
Topics
- Adult
- Aged
- Bone Marrow Transplantation
- Female
- Gaucher Disease
- Genetic Therapy
- Glucosylceramidase
- Humans
- Middle Aged
- Mutation
- Splenectomy