Article
Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.
Developmental neuroscience - 1 Jan 1991
Svennerholm L, Erikson A, Groth C G, Ringdén O, Månsson J E
Abstract excerpt
The Norrbottnian type of Gaucher disease is a well defined nosological entity with a characteristic course and clinical manifestations. The disease is caused by a deficiency of the enzyme glucosylceramidase (cerebroside-beta-glucosidase). Studies of genomic DNA and cDNA encoding the enzyme show a...
Topics
- Adolescent
- Bone Marrow Transplantation
- Brain
- Child
- Child, Preschool
- DNA
- Female
- Fibroblasts
- Foam Cells
- Follow-Up Studies
- Gaucher Disease
- Glucosylceramidase
- Glucosylceramides
- Humans
- Infant
- Lymphocytes
- Male
- Mutation