References
Hagenfeldt L, Bollgren I, Venizelos N (1987)N-Acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy.J Inher Metab Dis 10: 135–141.
Jakobs C, Ten Brink HJ, Langelaar SA et al (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 Inher Metab Dis 14: 653–660.
Jakobs C, Ten Brink HJ, Divry P, Rolland MO (1992) Prenatal detection of Canavan disease.Eur J Pediatr 151: 620 (letter).
Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease.Am J Med Genet 29: 463–471.
Matalon R, Michals K, Gashkoff P, Kaul R (1992) Prenatal diagnosis of Canavan disease.J Inher Metab Dis 15: 392–394.
Nigro F, Ribes A, Fiumara A, Siciliano L, Pavone L (1991)N-Acetylaspartic aciduria: report of 2 new cases with aspartoacylase assay.29th Annual Meeting SSIEM London, P148.
Ozand PT, Feryal RR, Gascon GG et al (1991) Prenatal detection of Canavan disease.Lancet 337: 735–736.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Rolland, M.O., Divry, P., Mandon, G. et al. First-trimester prenatal diagnosis of Canavan disease. J Inherit Metab Dis 16, 581–583 (1993). https://doi.org/10.1007/BF00711687
Issue Date:
DOI: https://doi.org/10.1007/BF00711687