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...

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Detalles Bibliográficos
Autores principales: Mew, Nicholas Ah, Caldovic, Ljubica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2011
Materias:
Review
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

Internet

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

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