Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

PURPOSE: Pathogenic autosomal recessive variants in CAD, encoding the multienzymatic protein initiating pyrimidine de novo biosynthesis, cause a severe inborn metabolic disorder treatable with a dietary supplement of uridine. This condition is difficult to diagnose given the large size of CAD with o...

Descripción completa

Detalles Bibliográficos
Autores principales: del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521996/
https://www.ncbi.nlm.nih.gov/pubmed/32461667
http://dx.doi.org/10.1038/s41436-020-0833-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521996/
https://www.ncbi.nlm.nih.gov/pubmed/32461667
http://dx.doi.org/10.1038/s41436-020-0833-2

Ejemplares similares