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Journal Abstract Search

149 related items for PubMed ID: 19821142

  • 21. Progress in understanding 2-hydroxyglutaric acidurias.
    Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C.
    J Inherit Metab Dis; 2012 Jul; 35(4):571-87. PubMed ID: 22391998
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  • 22. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
    Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E.
    Proc Natl Acad Sci U S A; 2004 Nov 30; 101(48):16849-54. PubMed ID: 15548604
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  • 23. A novel homozygous missense mutation in L-2-HGA gene: A case report.
    Liu Y, Wu Z, Wang W, Han H, Wang Y, Wang T.
    Clin Neurol Neurosurg; 2023 Feb 30; 225():107529. PubMed ID: 36610237
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  • 24. [L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].
    Saifullina EV, Zakharova EY, Kurkina MV, Magzhanov RV, Gaisina EV, Zakirova EN.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2017 Feb 30; 117(4):81-85. PubMed ID: 28617386
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  • 25. Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.
    Toplak M, Brunner J, Schmidt J, Macheroux P.
    Biochim Biophys Acta Proteins Proteom; 2019 Nov 30; 1867(11):140255. PubMed ID: 31349060
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  • 26. Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.
    Simon GA, Wierenga A.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2018 Oct 15; 1097-1098():101-110. PubMed ID: 30218917
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  • 28. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.
    Tai H, Zhang Z.
    BMC Neurol; 2015 Jul 25; 15():117. PubMed ID: 26208971
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  • 32. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
    Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C.
    Am J Hum Genet; 2005 Feb 25; 76(2):358-60. PubMed ID: 15609246
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  • 37. A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.
    Zhao G, Winkler ME.
    J Bacteriol; 1996 Jan 25; 178(1):232-9. PubMed ID: 8550422
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