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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Detalles Bibliográficos
Autor principal: Häberle, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2011
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176164/
https://www.ncbi.nlm.nih.gov/pubmed/21941437
http://dx.doi.org/10.2147/TCRM.S12703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176164/
https://www.ncbi.nlm.nih.gov/pubmed/21941437
http://dx.doi.org/10.2147/TCRM.S12703

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