PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders

Author:

Burlina A. B.,Bachmann C.,Wermuth B.,Bordugo A.,Ferrari V.,Colombo J. P.,Zacchello F.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Bachmann C, Kranhenbuhl S, Colombo JP, Schubiger G, Jaggi KH, Tonz O (1981)N-Acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.N Engl J Med 304: 543.

2. Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP (1988)N-Acetylglutamate synthetase deficiency, a second patient.J Inher Metab Dis 11: 191–193.

3. BAtshaw ML, Robinson MB, Heyes M (1990) Neurotransmitters, neurologic abnormalities and hyperammonemia.5th International Congress Inborn Errors of Metabolism, Asilomar, June 1990, W10.4

4. Colombo JP, Krahenbuhl S, Bachmann C, Aeberhard P (1982)N-Acetylglutamate synthetase enzyme assay in human liver.J Clin Chem Clin Biochem 20: 325–329.

5. Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H (1990) Late-onset form of partialN-acetylglutamate synthetase deficiency.Eur J Pediatr 149: 634–636.

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