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-Reference-Cited by-同舟云学术

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

Published:1991-09 Issue:5 Volume:14 Page:653-660
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Jakobs C.,ten Brink H. J.,Langelaar S. A.,Zee T.,Stellaard F.,Macek M.,Sršňová K.,Sršeň Š.,Kleijer W. J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF01799929

Reference13 articles.

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2. Canavan, M. M. Schilder's encephalites peri-axialis diffusa. Report of a case in a child aged sixteen and one-half months.Arch. Neurol. Psychiatry (Chicago) 25 (1931) 299–308

3. Divry, P., Vianey-Liaud, C., Gay, C., Macabeo, V., Rapin, F. and Echenne, B.N-Acetylaspartic aciduria; report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.J. Inher. Metab. Dis. 11 (1988) 307–308

4. Echenne, B., Divry, P. and Vianey-Liaud, C. Spongy degeneration of the neuraxis (Canavan-Van Bogaert Disease) andN-acetylaspartic aciduria.Neuropediatrics 20 (1989) 79–81

5. Elpeleg, O. N., Amir, N., Barash, V., Glick, B., Gross-Tsur, V., Shachar, E., Shapira, Y. and Tzelnik, N. Canavan disease andN-acetylaspartic aciduria.Neuropediatrics 20 (1989) 238

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