Associated Papers
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.
Yokota K et al.
Molecular Genetics and Metabolism Reports, 2025
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
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
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
Yamaguchi M et al.
Pathology International, 2016
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
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
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1.
Kretz R et al.
Molecular Genetics and Metabolism, 2012
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
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.
Kasahara M et al.
Pediatric Transplantation, 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
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
Wakutani Y et al.
Journal of Inherited Metabolic Disease, 2004