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Items: 1 to 20 of 97

1.

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
2.

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

Gessler P, Buchal P, Schwenk HU, Wermuth B.

Eur J Pediatr. 2010 Feb;169(2):197-9. doi: 10.1007/s00431-009-1006-0. Epub 2009 Jun 17.

PMID:
19533169
3.

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG.

Hum Mutat. 2003 Jun;21(6):593-7.

PMID:
12754705
4.

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M.

Hum Genet. 2003 Apr;112(4):364-8. Epub 2003 Feb 20.

PMID:
12594532
5.

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
6.

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG.

Biochim Biophys Acta. 2005 Apr 15;1740(1):54-9. Epub 2005 Feb 24.

7.

Mammalian N-acetylglutamate synthase.

Morizono H, Caldovic L, Shi D, Tuchman M.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S4-11. Review.

8.

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
9.
10.

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.

PMID:
2044610
11.

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. Epub 2007 Aug 20.

PMID:
17703373
12.

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. Epub 2007 May 9.

PMID:
17510757
13.

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
14.

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
15.

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.

PMID:
17421020
16.

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.

17.

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 13;299(4):581-6.

PMID:
12459178
18.

Late-onset form of partial N-acetylglutamate synthetase deficiency.

Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H.

Eur J Pediatr. 1990 Jun;149(9):634-6.

PMID:
2373115
19.

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.

PMID:
1779615
20.

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M.

Hum Mutat. 2005 Mar;25(3):293-8.

PMID:
15714518
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