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N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment
The conversion of ammonia into urea by the human liver requires the coordinated function of the 6 enzymes and 2 transporters of the urea cycle. The initial and rate-limiting enzyme of the urea cycle, carbamylphosphate synthetase 1 (CPS1), requires an allosteric activator, N-acetylglutamate (NAG). Th...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove Medical Press
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681184/ https://www.ncbi.nlm.nih.gov/pubmed/23776373 http://dx.doi.org/10.2147/TACG.S12702 |