Associated Papers
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E et al.
Developmental Medicine and Child Neurology, 2018
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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