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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1991 1
1992 1
1996 1
2002 3
2004 3
2005 1
2007 1
2008 1
2009 1
2010 4
2011 5
2014 3
2015 1
2016 7
2017 4
2018 6
2019 6
2020 7
2021 6
2022 9
2023 3
2024 0

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PubMed for id: 10295

68 results

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Page 1
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, 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. García-Cazorla A, et al. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431
The BCKDH Kinase and Phosphatase Integrate BCAA and Lipid Metabolism via Regulation of ATP-Citrate Lyase.
White PJ, McGarrah RW, Grimsrud PA, Tso SC, Yang WH, Haldeman JM, Grenier-Larouche T, An J, Lapworth AL, Astapova I, Hannou SA, George T, Arlotto M, Olson LB, Lai M, Zhang GF, Ilkayeva O, Herman MA, Wynn RM, Chuang DT, Newgard CB. White PJ, et al. Cell Metab. 2018 Jun 5;27(6):1281-1293.e7. doi: 10.1016/j.cmet.2018.04.015. Epub 2018 May 17. Cell Metab. 2018. PMID: 29779826 Free PMC article.
68 results