Associated Papers
Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools.
Li F et al.
Molecular Genetics and Metabolism Reports, 2025
40212732 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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 › CPS1_Patients
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C et al.
Human Mutation, 2013
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.
Kido J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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