N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an essential part of the urea cycle. Although NAGS...

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Detalles Bibliográficos
Autores principales: Al Kaabi, Eiman H., El-Hattab, Ayman W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992009/
https://www.ncbi.nlm.nih.gov/pubmed/27570737
http://dx.doi.org/10.1016/j.ymgmr.2016.08.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992009/
https://www.ncbi.nlm.nih.gov/pubmed/27570737
http://dx.doi.org/10.1016/j.ymgmr.2016.08.004

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