These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 13(22):2803-11. PubMed ID: 15385440
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [L-2-hydroxyglutaric aciduria, an error of metabolism].
    Van Schaftingen E
    Bull Mem Acad R Med Belg; 2007; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388
    [TBL] [Abstract][Full Text] [Related]  

  • 4. L-2-hydroxyglutaric aciduria, a defect of metabolite repair.
    Rzem R; Vincent MF; Van Schaftingen E; Veiga-da-Cunha M
    J Inherit Metab Dis; 2007 Oct; 30(5):681-9. PubMed ID: 17603759
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 101(48):16849-54. PubMed ID: 15548604
    [TBL] [Abstract][Full Text] [Related]  

  • 6. L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
    Van Schaftingen E; Rzem R; Veiga-da-Cunha M
    J Inherit Metab Dis; 2009 Apr; 32(2):135-42. PubMed ID: 19020988
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 76(2):358-60. PubMed ID: 15609246
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 88(1):53-7. PubMed ID: 16442322
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 58(4):626-30. PubMed ID: 16037974
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
    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
    Hum Mutat; 2010 Mar; 31(3):279-83. PubMed ID: 20020533
    [TBL] [Abstract][Full Text] [Related]  

  • 11. L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
    Zafeiriou DI; Ververi A; Salomons GS; Vargiami E; Haas D; Papadopoulou V; Kontopoulos E; Jakobs C
    Brain Dev; 2008 Apr; 30(4):305-7. PubMed ID: 17981416
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
    Loupatty FJ; van der Steen A; Ijlst L; Ruiter JP; Ofman R; Baumgartner MR; Ballhausen D; Yamaguchi S; Duran M; Wanders RJ
    Mol Genet Metab; 2006 Mar; 87(3):243-8. PubMed ID: 16466957
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
    Vilarinho L; Cardoso ML; Gaspar P; Barbot C; Azevedo L; Diogo L; Santos M; Carrilho I; Fineza I; Kok F; Chorão R; Alegria P; Martins E; Teixeira J; Cabral Fernandes H; Verhoeven NM; Salomons GS; Santorelli FM; Cabral P; Amorim A; Jakobs C
    Hum Mutat; 2005 Oct; 26(4):395-6. PubMed ID: 16134148
    [TBL] [Abstract][Full Text] [Related]  

  • 14. L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.
    Marcel C; Mallaret M; Lagha-Boukbiza O; Kremer S; Echaniz-Laguna A; Tranchant C
    Rev Neurol (Paris); 2012 Feb; 168(2):187-91. PubMed ID: 22030381
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 35(3):151-6. PubMed ID: 15248096
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
    Vilarinho L; Tafulo S; Sibilio M; Kok F; Fontana F; Diogo L; Venâncio M; Ferreira M; Nogueira C; Valongo C; Parenti G; Amorim A; Azevedo L
    J Hum Genet; 2010 Jan; 55(1):55-8. PubMed ID: 19911013
    [TBL] [Abstract][Full Text] [Related]  

  • 17. L-2-hydroxyglutaric aciduria and multiple acyl-coenzyme A dehydrogenase deficiency are distinct metabolic disorders.
    Rakheja D
    J Pediatr Hematol Oncol; 2010 Mar; 32(2):169-70. PubMed ID: 20168250
    [No Abstract]   [Full Text] [Related]  

  • 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; 86(1-2):200-5. PubMed ID: 16081310
    [TBL] [Abstract][Full Text] [Related]  

  • 19. L-2-hydroxyglutaric aciduria and brain tumors.
    Coşkun T
    J Pediatr Hematol Oncol; 2010 May; 32(4):339-40; author reply 340. PubMed ID: 20421813
    [No Abstract]   [Full Text] [Related]  

  • 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; 268(2):298-301. PubMed ID: 10679197
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.