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Journal Abstract Search

159 related items for PubMed ID: 16435212

  • 1. Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.
    Read MH, Bonamy C, Laloum D, Belloy F, Constans JM, Guillois B, Kottler ML, Verhoeven NM, Jakobs C.
    J Inherit Metab Dis; 2005; 28(6):1149-50. PubMed ID: 16435212
    [Abstract] [Full Text] [Related]

  • 2. Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria.
    Aydin K, Ozmen M, Tatli B, Sencer S.
    Pediatr Radiol; 2003 Dec; 33(12):872-6. PubMed ID: 12961043
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings.
    Sener RN.
    J Comput Assist Tomogr; 2003 Jun; 27(1):38-43. PubMed ID: 12544241
    [Abstract] [Full Text] [Related]

  • 5. Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.
    Kurul S, Cakmakçi H, Dirik E.
    Pediatr Neurol; 2004 Sep; 31(3):228-31. PubMed ID: 15351027
    [Abstract] [Full Text] [Related]

  • 6. [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]

  • 7. In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.
    Anghileri E, Bertolino N, Salsano E, Antelmi L, Carpinelli P, Castellotti B, Zucca I, Gellera C, Bisogno R, Caccia C, Cuccarini V.
    Brain Res; 2016 Oct 01; 1648(Pt A):506-511. PubMed ID: 27543339
    [Abstract] [Full Text] [Related]

  • 8. D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.
    Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP.
    J Child Neurol; 1997 Jan 01; 12(1):31-6. PubMed ID: 9010793
    [Abstract] [Full Text] [Related]

  • 9. D-2-Hydroxyglutaric aciduria and subdural haemorrhage.
    Kwong KL, Mak T, Fong CM, Poon KH, Wong SN, So KT.
    Acta Paediatr; 2002 Jan 01; 91(6):716-8. PubMed ID: 12162609
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 35(3):151-6. PubMed ID: 15248096
    [Abstract] [Full Text] [Related]

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  • 12. L-2-hydroxyglutaric aciduria presenting as migraine.
    Kossoff EH, Keswani SC, Raymond GV.
    Neurology; 2001 Nov 13; 57(9):1731-2. PubMed ID: 11706127
    [No Abstract] [Full Text] [Related]

  • 13. Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria.
    Patay Z, Orr BA, Shulkin BL, Hwang SN, Ying Y, Broniscer A, Boop FA, Ellison DW.
    J Inherit Metab Dis; 2015 Mar 13; 38(2):273-7. PubMed ID: 25338511
    [Abstract] [Full Text] [Related]

  • 14. 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 13; 62(4):666-70. PubMed ID: 15824270
    [Abstract] [Full Text] [Related]

  • 15. Osteoma of the calvaria in L-2-hydroxyglutaric aciduria.
    Larnaout A, Amouri R, Neji S, Zouari M, Kaabachi N, Hentati F.
    J Inherit Metab Dis; 2007 Nov 13; 30(6):980. PubMed ID: 17917788
    [Abstract] [Full Text] [Related]

  • 16. [L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood].
    Adeva-Bartolomé MT, Ribes A, Zurdo JM, Salomons G.
    Neurologia; 2009 Jun 13; 24(5):338-41. PubMed ID: 19642038
    [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 13; 45(1):111-9. PubMed ID: 9894884
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  • 19. Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria.
    Sugita K, Kakinuma H, Okajima Y, Ogawa A, Watanabe H, Niimi H.
    Brain Dev; 1995 Jan 13; 17(2):139-41; discussion 144-5. PubMed ID: 7625550
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