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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.
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.
BAtshaw ML, Robinson MB, Heyes M (1990) Neurotransmitters, neurologic abnormalities and hyperammonemia.5th International Congress Inborn Errors of Metabolism, Asilomar, June 1990, W10.4
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.
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.
Ferrari V, Giordano G, Cracco AT, Dussini N, Chiandetti L, Zacchello F (1989) Determination of urinary orotate excretion by high-performance liquid chromatography.J Chromatogr 497: 101–107.
Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Scupbach D (1991)N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.Eur J Pediatr 150: 353–356.
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Burlina, A.B., Bachmann, C., Wermuth, B. et al. PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders. J Inherit Metab Dis 15, 395–398 (1992). https://doi.org/10.1007/BF02435986
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DOI: https://doi.org/10.1007/BF02435986