Associated Papers
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
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Lin HT et al.
Molecular Genetics and Metabolism Reports, 2022
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O et al.
Journal of Inherited Metabolic Disease, 2021
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1.
Kretz R et al.
Molecular Genetics and Metabolism, 2012
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