Disease: Carbamoyl phosphate synthase 1 deficiency
- A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
- A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency
- 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
- CPS1: Looking at an ancient enzyme in a modern light
- Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc
- 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
- Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency
- Neonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I Deficiency
- Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
- Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency
- Sustained Virologic Remission in an 8-Month-old Pediatric Patient With Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct-acting Antivirals Prior to Liver Transplant
- TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation
- Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
- Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases
- Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency