Article
Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy.
The Quarterly journal of medicine - 1 Sept 1993
Zevin S, Abrahamov A, Hadas-Halpern I, Kannai R, Levy-Lahad E, Horowitz M, Zimran A
Abstract excerpt
Clinical manifestations of type 1 (Adult) Gaucher disease usually start in childhood. However, most of the previously published data describe the features of this disorder in adults. We present the clinical and genetic characteristics of 34 children and adolescents with type 1 Gaucher disease evaluated in our clinic during the past two years. Patients were aged 2-18 years; 18 were boys and 16 girls. The majority...
Topics
- Adolescent
- Anemia
- Bone Diseases
- Child
- Child, Preschool
- DNA Mutational Analysis
- Enzyme Therapy
- Female
- Gaucher Disease
- Growth Disorders
- Humans