16 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
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 |