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 confusion exists in the literature about the phenotype of spongiform encephalopathy (Canavan disease), with reports of...
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