1 | BCKDK, BCKDKD
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| Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.
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| Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P.
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| Biochim Biophys Acta 1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22.
2016
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2 | BCKDK, BCKDKD
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| Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
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| García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.
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| Hum Mutat 35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5.
2014
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3 | BCKDHA, BCKDK, BCKDKD
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| Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
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| Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.
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| Science 338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.
2012
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