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Journal Abstract Search

173 related items for PubMed ID: 16081310

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  • 2. [D-2-hydroxyglutaric aciduria. Report of two cases].
    Mahfoud A, Domínguez CL, Rashed M, Durán M, Rodríguez T, Rodríguez D, Landa V.
    Invest Clin; 2009 Sep; 50(3):369-75. PubMed ID: 19961059
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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; 88(1):53-7. PubMed ID: 16442322
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  • 11. [L-2-hydroxyglutaric aciduria: clinical, biochemical and neuroradiological findings in two Venezuelan patients].
    Mahfoud A, Domínguez CL, Pérez A, Rodríguez T, Cañizales E, Jaimes VH, Abadí A, Pérez EM, Belisario HB.
    Rev Neurol; 2006 May; 39(4):343-6. PubMed ID: 15340893
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  • 12. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
    Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA.
    Neuropediatrics; 2000 Jun; 31(3):137-40. PubMed ID: 10963100
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  • 17. 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
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  • 20. D-2-hydroxyglutaric aciduria: case report and biochemical studies.
    Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP, Hey E, Ogilvie D.
    J Inherit Metab Dis; 1980 Jan; 3(1):11-5. PubMed ID: 6774165
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