Article
Protracted clinical course for patients with Canavan disease.
Developmental medicine and child neurology - 1 Apr 1993
Zelnik N, Luder A S, Elpeleg O N, Gross-Tsur V, Amir N, Hemli J A, Fattal A, Harel S
Abstract excerpt
Before the establishment of N-acetylaspartic aciduria due to aspartoacylase deficiency as the cause of Canavan disease, diagnosis was based on the characteristic clinical features and spongiform encephalopathy, a pathological response shared by a number of other unrelated conditions. Thus confusi...
Topics
- Adolescent
- Amidohydrolases
- Aspartic Acid
- Brain Diseases
- Child
- Child, Preschool
- Female
- Fibroblasts
- Humans
- Infant
- Jews
- Male
- Movement Disorders
- Phenotype
- Syndrome