Article
Enzyme replacement therapy of infantile Gaucher disease.
Neuropediatrics - 1 Aug 1993
Erikson A, Johansson K, Månsson J E, Svennerholm L
Abstract excerpt
We report our experience from enzyme infusion therapy in a girl with infantile (type 2) Gaucher disease. When treatment was started at 5.5 months of age, she already had severe neurological symptoms. After three months of treatment, the hematological parameters and blood glucosylceramide levels were normalized. The spleen and liver sizes were reduced and the neurological deterioration seemed to have stopped....
Topics
- Female
- Gaucher Disease
- Glucosylceramidase
- Humans
- Infant
- Mutation
- Neurologic Examination