Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review

Background: Protein metabolism and urea production maintain protein and amino acid homeostasis in normal status. Ammonia results from amino acid turnover and is produced by intestinal urease-positive bacteria. Ammonia must be detoxified, and the urea cycle converts ammonia into urea. CPS1 is an enzy...

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Bibliographic Details
Main Authors: Mahmood Noori, Omar Jarrah, Aisha Al Shamsi
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001095
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