Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonaemia. The biochemical measurement of the intermediate metabolites is helpful for CPS1D diagnosis; it however cannot distinguish CPS1D from N-acetylglutamate s...

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Detalles Bibliográficos
Autores principales: Bai, Ruimiao, He, ALing, Guo, Jinzhen, Li, Zhankui, Yu, Xiping, Zeng, JunAn, Mi, Yang, Wang, Lin, Zhang, Jingjing, Yang, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634248/
https://www.ncbi.nlm.nih.gov/pubmed/36340787
http://dx.doi.org/10.3389/fnins.2022.1025572

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