Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
Zhang Z et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
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
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Imataka G et al.
European Review for Medical and Pharmacological Sciences, 2020
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Sugiyama Y et al.
Molecular Genetics and Metabolism Reports, 2020
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
Yamaguchi M et al.
Pathology International, 2016
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
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Kurokawa K et al.
Journal of Human Genetics, 2007
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