Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T et al.
Brain : a Journal of Neurology, 2023
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.
Oyarzabal A et al.
Biochimica Et Biophysica Acta, 2016
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
García-Cazorla A et al.
Human Mutation, 2014
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