A Patient With CAD Deficiency Responsive to Uridine and Literature Review

CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and...

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Detalles Bibliográficos
Autores principales: Zhou, Ling, Xu, Han, Wang, Tianshuang, Wu, Ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012989/
https://www.ncbi.nlm.nih.gov/pubmed/32117025
http://dx.doi.org/10.3389/fneur.2020.00064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012989/
https://www.ncbi.nlm.nih.gov/pubmed/32117025
http://dx.doi.org/10.3389/fneur.2020.00064

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