Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Submitted by iguillen on Mon, 06/17/2019 - 12:34 García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
