Author:
Caldovic Ljubica,Morizono Hiroki,Panglao Maria Gracia,Cheng Sabrina F.,Packman Seymour,Tuchman Mendel
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference28 articles.
1. Bachmann C, Krahenbuhl S, Colombo JP, Schubiger G, Jaggi KH, Tonz O (1981) N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification. N Engl J Med 304:543
2. Bachmann C, Krahenbuhl S, Colombo JP (1982a) Purification and properties of acetyl-CoA: L-glutamate N-acetyltransferase from human liver. Biochem J 205:123–127
3. Bachmann C, Colombo JP, Jaggi K (1982b) N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv Exp Med Biol 153:39–45
4. Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo J.P (1988) N-acetylglutamate synthetase deficiency, a second patient. J Inher Metab Dis 11:191–193
5. Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F (1992) Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders. J Inherit Metab Dis 15:395–398
Cited by
47 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献