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Journal Abstract Search


233 related items for PubMed ID: 16005139

  • 1. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
    Rzem R, Van Schaftingen E, Veiga-da-Cunha M.
    Biochimie; 2006 Jan; 88(1):113-6. PubMed ID: 16005139
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  • 2. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
    Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J.
    Hum Mol Genet; 2004 Nov 15; 13(22):2803-11. PubMed ID: 15385440
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  • 3. [L-2-hydroxyglutaric aciduria, an error of metabolism].
    Van Schaftingen E.
    Bull Mem Acad R Med Belg; 2007 Nov 15; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388
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  • 8. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
    Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C.
    Mol Genet Metab; 2006 May 15; 88(1):53-7. PubMed ID: 16442322
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  • 9. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
    Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C.
    Ann Neurol; 2005 Oct 15; 58(4):626-30. PubMed ID: 16037974
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  • 15. D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
    Korman SH, Salomons GS, Gutman A, Brooks R, Jakobs C.
    Neuropediatrics; 2004 Jun 15; 35(3):151-6. PubMed ID: 15248096
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  • 17. L-2-hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders.
    Rakheja D.
    J Pediatr Hematol Oncol; 2010 Mar 15; 32(2):169-70. PubMed ID: 20168250
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  • 18. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
    Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW.
    Mol Genet Metab; 2005 Mar 15; 86(1-2):200-5. PubMed ID: 16081310
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  • 19. L-2-hydroxyglutaric aciduria and brain tumors.
    Coşkun T.
    J Pediatr Hematol Oncol; 2010 May 15; 32(4):339-40; author reply 340. PubMed ID: 20421813
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  • 20. Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q.
    Huang T, Yang W, Pereira AC, Craigen WJ, Shih VE.
    Biochem Biophys Res Commun; 2000 Feb 16; 268(2):298-301. PubMed ID: 10679197
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