Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco del Caño‐Ochoa, Bobby G. Ng, Malak Abedalthagafi, Mohammed Almannai, Ronald D. Cohn, Gregory Costain, Orly N Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, Pengfei Liu, M. Chiara Manzini, Reza Maroofian, Michael J. Muriello, Ali Al‐Otaibi, Hema Patel, , Santiago Ramón‐Maiques
The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.
Genetics in Medicine · May 27, 2020Peer-reviewedGenetics