N-acetylglutamic acid

N-acetylglutamate synthase ; Homo sapiens







16 Article(s)
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1 34510628 Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. 2021 Dec 1
2 30337552 N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. 2018 Oct 18 2
3 27570737 N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. 2016 Sep 2
4 27771289 A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. 2016 Dec 1
5 27934952 Effect of arginine on oligomerization and stability of N-acetylglutamate synthase. 2016 Dec 9 1
6 25615976 Structures of the N-acetyltransferase domain of Xylella fastidiosa N-acetyl-L-glutamate synthase/kinase with and without a His tag bound to N-acetyl-L-glutamate. 2015 Jan 1 1
7 26068232 The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms. 2015 Jun 9 1
8 22383952 Transcriptional regulation of N-acetylglutamate synthase. 2012 1
9 30780843 Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia. 2012 May 2
10 21941437 Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. 2011 1
11 18801197 Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods. 2008 Sep 18 2
12 16321554 Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. 2006 Mar 2
13 15878741 Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 2005 Apr 15 1
14 12594532 Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 2003 Apr 1
15 12633501 N-acetylglutamate and its changing role through evolution. 2003 Jun 1 3
16 12447942 N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. 2002 Dec 2