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Last Updated: 01/07/2026
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Found 353 publications
A case of late-onset carbamoyl phosphate synthetase 1 deficiency: diagnostic challenges and management in a low-resource setting.
Journal: Clinical biochemistry
Published: August 14, 2025
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.
Journal: The New England journal of medicine
Published: May 15, 2025
The current social status in adult patients with urea cycle disorders in Japan.
Journal: Molecular genetics and metabolism
Published: March 02, 2025
ASS1 inhibits liver cancer by promoting CAD ubiquitination and reversing the urea cycle and pyrimidine synthesis imbalance.
Journal: Hepatology communications
Published: February 07, 2025
A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.
Journal: Disease models & mechanisms
Published: January 25, 2025
Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 08, 2025
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.
Journal: Molecular genetics and metabolism reports
Published: August 30, 2024
Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.
Journal: Molecular therapy. Nucleic acids
Published: August 08, 2024
Living-Donor Liver Transplantation in a Carbamoyl Phosphate Synthetase I Deficiency Recipient With Scoliosis: A Case Report.
Journal: Pediatric transplantation
Published: July 05, 2024
Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
Journal: Orphanet journal of rare diseases
Published: June 25, 2024
Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools.
Journal: Molecular genetics and metabolism reports
Published: June 24, 2024
A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 23, 2024
Last Updated: 01/07/2026