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Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency

N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The product of NAGS is N-acetylglutamate which is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1. In defe...

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Библиографические подробности
Главный автор: Häberle, Johannes
Формат: Artigo
Язык:Inglês
Опубликовано: Dove Medical Press 2011
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3176164/
https://ncbi.nlm.nih.gov/pubmed/21941437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S12703
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