1.
Neuropediatrics
; 21(3): 140-2, 1990 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-2234319
RESUMEN
Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.