Carbamoyl Phosphate Synthetase 1 Deficiency Latest Advances
Find the Latest Research About Carbamoyl Phosphate Synthetase 1 Deficiency
Last Updated: 04/28/2026
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Found 357 publications
From consanguinity to crisis: a rare cause of neonatal encephalopathy.
Journal: BMJ case reports
Published: February 10, 2026
The New Wave of Gene and Cell Therapies Across Diseases.
Journal: Journal of clinical medicine
Published: January 20, 2026
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
Last Updated: 04/28/2026