N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

N‐carbamoyl‐l‐glutamate (NCG), the N‐acetyl‐l‐glutamate analogue used to treat N‐acetylglutamate synthase deficiency, has been proposed as potential therapy of carbamoyl phosphate synthetase 1 deficiency (CPS1D). Previous findings in five CPS1D patients suggest that NCG‐responsiveness could be mutat...

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Detalles Bibliográficos
Autores principales: Yap, Sufin, Gougeard, Nadine, Hart, Anthony R., Barcelona, Belén, Rubio, Vicente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606979/
https://www.ncbi.nlm.nih.gov/pubmed/31392111
http://dx.doi.org/10.1002/jmd2.12034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606979/
https://www.ncbi.nlm.nih.gov/pubmed/31392111
http://dx.doi.org/10.1002/jmd2.12034

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