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Items: 1 to 20 of 100

1.

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.

PMID:
15480384
2.

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Nissim I, Korson M, Burton B, Yudkoff M.

Pediatr Res. 2008 Aug;64(2):213-7. doi: 10.1203/PDR.0b013e318179454b.

3.

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV.

J Inherit Metab Dis. 1998 Dec;21(8):867-8. No abstract available.

PMID:
9870213
4.

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M.

J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29.

5.

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.

PMID:
7623444
6.
7.

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.

Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C.

Ann Neurol. 2002 Dec;52(6):845-9.

PMID:
12447942
8.

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ.

J Inherit Metab Dis. 1997 Nov;20(6):839-40. No abstract available.

PMID:
9427158
9.

Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.

Nissim I, Horyn O, Nissim I, Daikhin Y, Caldovic L, Barcelona B, Cervera J, Tuchman M, Yudkoff M.

J Biol Chem. 2011 Jun 24;286(25):22055-68. doi: 10.1074/jbc.M110.209023. Epub 2011 May 3.

10.

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.

J Hum Genet. 2015 Jul;60(7):395-7. doi: 10.1038/jhg.2015.30. Epub 2015 Mar 19.

PMID:
25787344
11.

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M.

Hum Mutat. 2011 Oct;32(10):1153-60. doi: 10.1002/humu.21553. Epub 2011 Sep 9.

12.

Short term regulation of ureagenesis.

Stewart PM, Walser M.

J Biol Chem. 1980 Jun 10;255(11):5270-80.

13.

Role of the glutamate dehydrogenase reaction in furnishing aspartate nitrogen for urea synthesis: studies in perfused rat liver with 15N.

Nissim I, Horyn O, Luhovyy B, Lazarow A, Daikhin Y, Nissim I, Yudkoff M.

Biochem J. 2003 Nov 15;376(Pt 1):179-88.

14.
15.

N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.

Bachmann C, Colombo JP, Jaggi K.

Adv Exp Med Biol. 1982;153:39-45. No abstract available.

PMID:
7164912
16.

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

Guffon N, Schiff M, Cheillan D, Wermuth B, Häberle J, Vianey-Saban C.

J Pediatr. 2005 Aug;147(2):260-2.

PMID:
16126063
17.

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.

Häberle J.

Ther Clin Risk Manag. 2011;7:327-32. doi: 10.2147/TCRM.S12703. Epub 2011 Aug 2.

18.

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.

PMID:
3936265
19.

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.

PMID:
15858972
20.

N-acetylglutamate synthetase (NAGS) deficiency.

Colombo JP.

Adv Exp Med Biol. 1994;368:135-43. Review. No abstract available.

PMID:
7741005

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