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Canavan Disease and N-Acetylaspartic Aciduria
Neuropediatrics, 1989O. Elpeleg +7 more
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[N-acetylaspartic aciduria. Clinical, biological and physiopathological study].
Archives francaises de pediatrie, 1991Two cases of N-acetylaspartic aciduria in siblings are described and compared to the 18 cases already reported. The disease should be considered in childhood when a syndrome of severe encephalopathy with macrocephaly, blindness caused by optic atrophy and diffuse leucodystrophy on CT scan occurs.
C, Gay, P, Divry, V, Macabeo, R, Gilly
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