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6. Transient hyperammonemias in infants with and without organic acidemia. Nyhan WL; Rubio V; Jordá A; Grisolia S; Gutierez F; Canosa C Adv Exp Med Biol; 1982; 153():331-8. PubMed ID: 7164908 [No Abstract] [Full Text] [Related]
7. A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. Guffon N; Vianey-Saban C; Bourgeois J; Rabier D; Colombo JP; Guibaud P J Inherit Metab Dis; 1995; 18(1):61-5. PubMed ID: 7623444 [TBL] [Abstract][Full Text] [Related]
8. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Schubiger G; Bachmann C; Barben P; Colombo JP; Tönz O; Schüpbach D Eur J Pediatr; 1991 Mar; 150(5):353-6. PubMed ID: 2044610 [TBL] [Abstract][Full Text] [Related]
9. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. Bachmann C; Krähenbühl S; Colombo JP; Schubiger G; Jaggi KH; Tönz O N Engl J Med; 1981 Feb; 304(9):543. PubMed ID: 7453791 [No Abstract] [Full Text] [Related]
10. N-acetylglutamate synthetase deficiency: clinical and laboratory observations. Pandya AL; Koch R; Hommes FA; Williams JC J Inherit Metab Dis; 1991; 14(5):685-90. PubMed ID: 1779615 [TBL] [Abstract][Full Text] [Related]
11. A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset. Nordenström A; Halldin M; Hallberg B; Alm J J Inherit Metab Dis; 2007 Jun; 30(3):400. PubMed ID: 17510757 [TBL] [Abstract][Full Text] [Related]
12. Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate. Plecko B; Erwa W; Wermuth B Eur J Pediatr; 1998 Dec; 157(12):996-8. PubMed ID: 9877039 [TBL] [Abstract][Full Text] [Related]
14. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. Campbell AG; Rosenberg LE; Snodgrass PJ; Nuzum CT N Engl J Med; 1973 Jan; 288(1):1-6. PubMed ID: 4681895 [No Abstract] [Full Text] [Related]
15. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. Caldovic L; Morizono H; Daikhin Y; Nissim I; McCarter RJ; Yudkoff M; Tuchman M J Pediatr; 2004 Oct; 145(4):552-4. PubMed ID: 15480384 [TBL] [Abstract][Full Text] [Related]
16. Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. Heckmann M; Wermuth B; Häberle J; Koch HG; Gortner L; Kreuder JG Acta Paediatr; 2005 Jan; 94(1):121-4. PubMed ID: 15858972 [TBL] [Abstract][Full Text] [Related]
17. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. Dercksen M; Duran M; IJlst L; Kulik W; Ruiter JP; van Cruchten A; Tuchman M; Wanders RJ Mol Genet Metab; 2016 Dec; 119(4):307-310. PubMed ID: 27771289 [TBL] [Abstract][Full Text] [Related]
20. Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications. Vockley J; Vockley CM; Lin SP; Tuchman M; Wu TC; Lin CY; Seashore MR Biochem Med Metab Biol; 1992 Feb; 47(1):38-46. PubMed ID: 1562355 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]