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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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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2011
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| Acesso em linha: | 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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