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329 related items for PubMed ID: 19961059

  • 1. [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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. [L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood].
    Adeva-Bartolomé MT, Ribes A, Zurdo JM, Salomons G.
    Neurologia; 2009 Jun; 24(5):338-41. PubMed ID: 19642038
    [Abstract] [Full Text] [Related]

  • 4. 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; 62(4):666-70. PubMed ID: 15824270
    [Abstract] [Full Text] [Related]

  • 5. [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 Apr; 218(2):72-3. PubMed ID: 16506106
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. [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; 2004 Jun 10; 39(4):343-6. PubMed ID: 15340893
    [Abstract] [Full Text] [Related]

  • 9. L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature.
    Shafeghati Y, Vakili G, Entezari A.
    Arch Iran Med; 2006 Apr 10; 9(2):165-9. PubMed ID: 16649364
    [Abstract] [Full Text] [Related]

  • 10. 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 Apr 10; 86(1-2):200-5. PubMed ID: 16081310
    [Abstract] [Full Text] [Related]

  • 11. [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].
    Martínez Granero MA, Garcia Pérez A, Martínez-Pardo M, Parra E.
    Neurologia; 2005 Jun 10; 20(5):255-60. PubMed ID: 15954035
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 168(2):187-91. PubMed ID: 22030381
    [Abstract] [Full Text] [Related]

  • 13. Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.
    Mete A, Isikay S, Sirikci A, Ozkur A, Bayram M.
    Pediatr Neurol; 2012 Mar 10; 46(3):195-7. PubMed ID: 22353300
    [Abstract] [Full Text] [Related]

  • 14. [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; 2012 Mar 10; 44(10):610-5. PubMed ID: 17523120
    [Abstract] [Full Text] [Related]

  • 15. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria.
    Yilmaz K.
    Eur J Paediatr Neurol; 2009 Jan 10; 13(1):57-60. PubMed ID: 18343698
    [Abstract] [Full Text] [Related]

  • 16. [L-2-hydroxyglutaric aciduria: report on two cases].
    Wagner S, Vianey-Saban C, Salomons GS, Schmitt E, Feillet F.
    Arch Pediatr; 2014 Jan 10; 21(1):78-85. PubMed ID: 24321868
    [Abstract] [Full Text] [Related]

  • 17. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
    van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA.
    Ann Neurol; 1999 Jan 10; 45(1):111-9. PubMed ID: 9894884
    [Abstract] [Full Text] [Related]

  • 18. [Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].
    Pascual-Castroviejo I, Pascual-Pascual SI, Merinero B, Ugarte M, Garcia-Segura JM, Viaño J, Velazquez R.
    Neurologia; 2005 May 10; 20(4):189-93. PubMed ID: 15891948
    [Abstract] [Full Text] [Related]

  • 19. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
    Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS.
    Eur J Paediatr Neurol; 2007 Mar 10; 11(2):81-9. PubMed ID: 17188916
    [Abstract] [Full Text] [Related]

  • 20. L-2 hydroxyglutaric aciduria presenting with status epilepticus.
    Işikay S.
    BMJ Case Rep; 2013 Jun 07; 2013():. PubMed ID: 23749865
    [Abstract] [Full Text] [Related]

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