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Journal Abstract Search

224 related items for PubMed ID: 10449646

  • 1. Facial anomalies in D-2-hydroxyglutaric aciduria.
    Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A.
    Am J Med Genet; 1999 Sep 10; 86(2):124-9. PubMed ID: 10449646
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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 10; 50(3):369-75. PubMed ID: 19961059
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  • 4. [Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].
    Mahfoud A, Domínguez CL, Rizzo C, García-Villoria J, Navarro-Sastre A, Ribes A.
    Rev Neurol; 2009 Sep 10; 44(10):610-5. PubMed ID: 17523120
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  • 6. 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 Sep 10; 86(1-2):200-5. PubMed ID: 16081310
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  • 7. [L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood].
    Adeva-Bartolomé MT, Ribes A, Zurdo JM, Salomons G.
    Neurologia; 2009 Jun 10; 24(5):338-41. PubMed ID: 19642038
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  • 8. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
    Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M.
    Arch Neurol; 2005 Apr 10; 62(4):666-70. PubMed ID: 15824270
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  • 9. 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 10; 35(3):151-6. PubMed ID: 15248096
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  • 10. 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 10; 88(1):53-7. PubMed ID: 16442322
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  • 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 10; 30(4):305-7. PubMed ID: 17981416
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  • 12. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
    Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA.
    Neurology; 2010 Sep 21; 75(12):1079-83. PubMed ID: 20855850
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  • 13. [L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly].
    Hussmann O, Haas D, Neubauer BA, Kruse B, Huegens-Penzel M, Jakobs C, Hahn A.
    Klin Padiatr; 2006 Sep 21; 218(2):72-3. PubMed ID: 16506106
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  • 14. L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.
    de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M.
    Neuropediatrics; 1997 Dec 21; 28(6):314-7. PubMed ID: 9453028
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  • 16. D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.
    Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP.
    Am J Med Genet A; 2003 Aug 01; 120A(4):523-7. PubMed ID: 12884432
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