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Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1deficiency with N-carbamylglutamate

Identical studies employing stable isotopes were performed before and after a 3-day trial of oral N-carbamylglutamate (NCG) in 5 subjects with late onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement...

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Autori principali: Ah Mew, Nicholas, McCarter, Robert, Daikhin, Yevgeny, Lichter, Uta, Nissim, Ilana, Yudkoff, Marc, Tuchman, and Mendel
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4111993/
https://ncbi.nlm.nih.gov/pubmed/24880889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2014.04.012
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