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
37847851 (PubMed )
Supplement: JIMD-47-1175-s001.xlsx › Table_S1
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
37047726 (PubMed )
Supplement: ijms-24-06754-s001.zip › ijms-2241907-supplementary › Supplementary_Tables_Figures › Supplementary_Table_S10.xlsx › NAGS_Patients
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
van de Logt AE et al.
Jimd Reports, 2017
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.
Reigstad H et al.
Jimd Reports, 2017
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
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
Ah Mew N et al.
The Application of Clinical Genetics, 2011
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
Gessler P et al.
European Journal of Pediatrics, 2010
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
Caldovic L et al.
Human Mutation, 2007
Genetic approach to prenatal diagnosis in urea cycle defects.
Häberle J et al.
Prenatal Diagnosis, 2004
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
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Caldovic L et al.
Human Genetics, 2003
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