Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00714274
Reference13 articles.
1. Divry P, Mathieu M (1989) Aspartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease. (Letter)Am J Med Genet 32: 550?551.
2. 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 Inher Metab Dis 11: 307?308.
3. Gascon GG, Ozand PT, Mahdi A et al (1990) Infantile CNS spongy degeneration ? 14 cases.Neurology 40: 1876?1882.
4. 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.
5. Jakobs C, ten Brink HJ, Divry P, Rolland MO (1992) Prenatal diagnosis of Canavan disease (Letter).Eur J Pediatr 151: 620.
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