Associated Papers
Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report.
Thaver S et al.
Bmc Pediatrics, 2025
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
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
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
Caldovic L et al.
Human Mutation, 2007
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Häberle J et al.
Human Mutation, 2003
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.
Häberle J et al.
Journal of Inherited Metabolic Disease, 2003
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