Urea

N-acetyl-alpha-glucosaminidase ; Homo sapiens







19 Article(s)
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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