Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
Divry
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Mathieu
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D000581:Amidohydrolases / Q000172:deficiency*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D002493:Central Nervous System Diseases / Q000097:blood* / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics; D009410:Nerve Degeneration
D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase