Carbamoyl Phosphate Synthetase 1 Deficiency Latest Advances

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