Spongy Degeneration of the Neuraxis (Canavan-Van Bogaert Disease) and N-Acetylaspartic Aciduria
- 1 May 1989
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 20 (02) , 79-81
- https://doi.org/10.1055/s-2008-1071269
Abstract
Urinary excretion of an abnormal amount of N-acetylaspartic acid has been evident in a 17-month-old child with an infantile picture of Canavan-van Bogaert disease. This observation makes it possible to consider the possibility of a simple biological diagnosis and confirms the existence of metabolic abnormalities which will probably permit to make rapid progress in the physiopathologic study of this disease.Keywords
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