Disease: Carbamoyl Phosphate Synthase Deficiency
- <em>NAGS</em>, <em>CPS1</em>, and <em>SLC25A13</em> (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells
- A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
- Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report
- Automated grape leaf nutrition deficiency disease detection and classification Equilibrium Optimizer with deep transfer learning model
- Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review
- Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency
- Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy
- Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency
- CPS1: Looking at an ancient enzyme in a modern light
- CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis
- Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc
- Discovery of a Carbamoyl Phosphate Synthetase 1-Deficient HCC Subtype With Therapeutic Potential Through Integrative Genomic and Experimental Analysis
- Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation
- Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
- Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening
- Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detectedin newborn screening
- Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency
- Lysinuric protein intolerance mimicking <em>N</em>-acetylglutamate synthase deficiency in a nine-year-old boy
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management
- Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review
- Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
- Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases
- Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency
- Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency
- Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review