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
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
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.
Makris G et al.
Biochimie, 2021
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
Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.
Cornelius LP et al.
Annals of Indian Academy of Neurology, 0
Select a paper to view details