19 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 30337552 | N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. | 2018 Oct 18 | 2 |
2 | 27570737 | N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. | 2016 Sep | 3 |
3 | 27771289 | A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. | 2016 Dec | 1 |
4 | 30034506 | Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders. | 2016 | 2 |
5 | 26059772 | The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle. | 2015 May 20 | 1 |
6 | 26592762 | Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis. | 2015 Nov 23 | 4 |
7 | 24880489 | Novel synthesis of dihydropyrimidines for α-glucosidase inhibition to treat type 2 diabetes: in vitro biological evaluation and in silico docking. | 2014 Jun | 2 |
8 | 25354943 | Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency. | 2014 Dec 15 | 1 |
9 | 23894642 | Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms. | 2013 | 2 |
10 | 30780843 | Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia. | 2012 May | 5 |
11 | 23776373 | N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. | 2011 | 2 |
12 | 20303810 | N-acetylglutamate synthase: structure, function and defects. | 2010 | 1 |
13 | 19754428 | Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. | 2009 Nov 11 | 3 |
14 | 18338235 | N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. | 2008 Dec | 2 |
15 | 16321554 | Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. | 2006 Mar | 1 |
16 | 15714518 | Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. | 2005 Mar | 1 |
17 | 12459178 | Cloning and expression of the human N-acetylglutamate synthase gene. | 2002 Dec 13 | 1 |
18 | 1562355 | Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications. | 1992 Feb | 3 |
19 | 3886433 | Nutritional influences on the distribution of the urea cycle: intermediates in isolated hepatocytes. | 1985 May | 2 |