Prenatal diagnosis of Canavan disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/BF01957737.pdf
Reference4 articles.
1. Divry P, Vianey-Liaud C, Gay C, Macabeo V, Rapin F, Echenne B (1988)N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherited Metab Dis 11:307–308
2. Jakobs C, Brink HJ ten, Langelaar SA, Zee T, Stellaard F, Macek M, Srsnova K, Srsen S, Kleijer WJ (1991) Stable isotope dilution analysis ofN-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inherited Metab Dis 14:653–660
3. Matalon R, Michals KM, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease. Am J Hum Genet 29:463–471
4. Ozand PT, Gascon GG, Al Aqeel MJ, Nester MJ, Feryal RR, Gleispach H, Cook JD, Al Odaib A (1991) Prenatal detection of Canavan Disease. Lancet 335:735–736
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