1 | D2HA, D2HGDH, IDH1, IDH2
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| IDH1 and IDH2 have critical roles in 2-hydroxyglutarate production in D-2-hydroxyglutarate dehydrogenase depleted cells.
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| Matsunaga H, Futakuchi-Tsuchida A, Takahashi M, Ishikawa T, Tsuji M, Ando O.
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| Biochem Biophys Res Commun 423(3):553-6. doi: 10.1016/j.bbrc.2012.06.002. Epub 2012 Jun 7.
2012
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2 | D2HA, D2HGDH
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| Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
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| Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.
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| Hum Mutat 31(3):279-83. doi: 10.1002/humu.21186.
2010
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3 | D2HA, D2HGDH
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| Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
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| Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA.
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| J Inherit Metab Dis 32(2):264-8. doi: 10.1007/s10545-009-1104-1. Epub 2009 Mar 13.
2009
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4 | D2HA, D2HGDH
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| Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
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| Haliloglu G, Temucin CM, Oguz KK, Celiker A, Coskun T, Sass JO, Fischer J, Topcu M.
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| J Inherit Metab Dis 32 Suppl 1:S21-5. doi: 10.1007/s10545-009-0933-2. Epub 2009 Jan 26.
2009
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5 | D2HGDH, D2HA
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| Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
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| Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C.
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| Am J Hum Genet 76(2):358-60. Epub 2004 Dec 17. 2005
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6 | D2HGDH, D2HA
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| Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
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| Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C.
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| Ann Neurol 58(4):626-30. 2005
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7 | D2HGDH, D2HA
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| Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
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| Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW.
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| Mol Genet Metab 86(1-2):200-5. Epub 2005 Aug 2. 2005
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8 | D2HGDH, D2HA
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| Identification of a dehydrogenase acting on D-2-hydroxyglutarate.
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| Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E.
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| Biochem J 381(Pt 1):35-42. 2004
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