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Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

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...

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Detalles Bibliográficos
Autores principales:	Sugiyama, Yohei, Shimura, Masaru, Ogawa-Tominaga, Minako, Ebihara, Tomohiro, Kinouchi, Yoshina, Isozaki, Keitaro, Matsuhashi, Tetsuro, Tajika, Makiko, Fushimi, Takuya, Ichimoto, Keiko, Matsunaga, Ayako, Ishida, Tomoki, Mizutani, Kayo, Tsuruoka, Tomoko, Murayama, Kei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347628/ https://www.ncbi.nlm.nih.gov/pubmed/32670798 http://dx.doi.org/10.1016/j.ymgmr.2020.100622

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