Associated Papers
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
Caldovic L et al.
Journal of Inherited Metabolic Disease, 2024
Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.
Gougeard N et al.
Journal of Inherited Metabolic Disease, 2024
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
Olgac A et al.
Archivos Argentinos De Pediatria, 2020
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
Al Kaabi EH et al.
Molecular Genetics and Metabolism Reports, 2016
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Sancho-Vaello E et al.
Human Mutation, 2016
Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.
Chapel-Crespo CC et al.
Expert Review of Endocrinology & Metabolism, 2016
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.
Van Leynseele A et al.
European Journal of Pediatrics, 2014
A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris.
Shi D et al.
Plos One, 2011
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
Ah Mew N et al.
The Application of Clinical Genetics, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
Caldovic L et al.
Human Mutation, 2007
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
Schmidt E et al.
Biochimica Et Biophysica Acta, 2005
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
Heckmann M et al.
Acta Paediatrica (oslo, Norway : 1992), 2005
Mammalian N-acetylglutamate synthase.
Morizono H et al.
Molecular Genetics and Metabolism, 2004
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Häberle J et al.
Human Mutation, 2003