๐Ÿ‘ค Keiko Ichimoto

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Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga +12 more ยท 2020 ยท Molecular genetics and metabolism reports ยท Elsevier ยท added 2026-04-24
The detoxification of ammonia to urea requires a functional hepatic urea cycle, which consists of six enzymes and two mitochondrial membrane transporters. The initial step of the urea cycle is catalyz Show more
The detoxification of ammonia to urea requires a functional hepatic urea cycle, which consists of six enzymes and two mitochondrial membrane transporters. The initial step of the urea cycle is catalyzed by carbamyl phosphate synthetase 1 (CPS1). CPS1 deficiency (CPS1D) is a rare autosomal recessive disorder. Show less
๐Ÿ“„ PDF DOI: 10.1016/j.ymgmr.2020.100622
CPS1