Associated Papers
Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
Wang S et al.
Bmc Medical Genomics, 2023
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
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
Ishikawa R et al.
Internal Medicine (tokyo, Japan), 2022
Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.
Bai R et al.
Frontiers in Neuroscience, 2022
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Yap S et al.
Jimd Reports, 2019
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Zhang G et al.
Journal of Clinical Laboratory Analysis, 2018
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Ali EZ et al.
European Journal of Pediatrics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
Ah Mew N et al.
The Journal of Pediatrics, 2014
Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.
Díez-Fernández C et al.
Molecular Genetics and Metabolism, 2014
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Häberle J et al.
Human Mutation, 2011
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Martínez AI et al.
Molecular Genetics and Metabolism, 2010
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
Khayat M
Human Genetics, 2009
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K et al.
Journal of Human Genetics, 2007
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