Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
- 1 April 2005
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1740 (1) , 54-59
- https://doi.org/10.1016/j.bbadis.2005.02.006
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Mammalian N-acetylglutamate synthaseMolecular Genetics and Metabolism, 2004
- Mutation analysis in patients with N-acetylglutamate synthase deficiencyHuman Mutation, 2003
- Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemiaHuman Genetics, 2003
- Cloning and expression of the human N-acetylglutamate synthase geneBiochemical and Biophysical Research Communications, 2002
- N‐acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathyAnnals of Neurology, 2002
- A New Yeast Metabolon Involving at Least the Two First Enzymes of Arginine BiosynthesisJournal of Biological Chemistry, 2001
- N-Acetylglutamate Synthetase (NAGS) DeficiencyPublished by Springer Nature ,1994
- Control of ureogenesisEuropean Journal of Biochemistry, 1985
- N-Acetylglutamate Synthetase Deficiency: A Disorder of Ammonia DetoxicationNew England Journal of Medicine, 1981
- N-Acetylglutamate Synthetase from Rat-Liver Mitochondria. Partial Purification and Catalytic PropertiesEuropean Journal of Biochemistry, 1978