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9. Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase. Sonaimuthu P; Senkevitch E; Haskins N; Uapinyoying P; McNutt M; Morizono H; Tuchman M; Caldovic L Sci Rep; 2021 Feb; 11(1):3580. PubMed ID: 33574402 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Bachmann C; Colombo JP; Jaggi K Adv Exp Med Biol; 1982; 153():39-45. PubMed ID: 7164912 [No Abstract] [Full Text] [Related]
13. 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]
14. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. Caldovic L; Morizono H; Tuchman M Hum Mutat; 2007 Aug; 28(8):754-9. PubMed ID: 17421020 [TBL] [Abstract][Full Text] [Related]
15. Cloning and expression of the human N-acetylglutamate synthase gene. Caldovic L; Morizono H; Gracia Panglao M; Gallegos R; Yu X; Shi D; Malamy MH; Allewell NM; Tuchman M Biochem Biophys Res Commun; 2002 Dec; 299(4):581-6. PubMed ID: 12459178 [TBL] [Abstract][Full Text] [Related]
16. Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. Hwu WL; Chien YH; Tang NL; Law LK; Lin CY; Lee NC J Inherit Metab Dis; 2007 Oct; 30(5):816. PubMed ID: 17703373 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency. Zimmermann A; Bachmann C; Schubiger G Virchows Arch A Pathol Anat Histopathol; 1985; 408(2-3):259-68. PubMed ID: 3936265 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]