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Volumn 17, Issue 3, 2008, Pages 258-261

Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: A case report

Author keywords

Cerebrospinal fluid; Electroencephalography; Gas chromatography mass spectrometry; L 2 Hydroxyglutaric aciduria; Magnetic resonance imaging; Organic acids; White matter

Indexed keywords

2 HYDROXYGLUTARIC ACID; ANTICONVULSIVE AGENT; OXYCARBAMAZEPINE; PHENYTOIN; UNCLASSIFIED DRUG;

EID: 42149110270     PISSN: 10117571     EISSN: None     Source Type: Journal    
DOI: 10.1159/000117804     Document Type: Article
Times cited : (7)

References (10)
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    • Duran M, Kimberling JP, Bakker HD, Van Gennip AH, Wadman SK: L-2-hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980;3:109-112.
  • 2
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    • Moroni, I.1    D'Incerti, L.2    Farina, L.3    Rimoldi, M.4    Uziel, G.5
  • 3
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    • Barth Hoffmann GF, Jaeken J, Wanders RJA, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, Schutgens RBH, Trefz FK, Hartung HP, Chamoles NA, Sfaello Z, Caruso U: L-2-hydroxyglutaric academia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyglutaric acid dehydrogenase. J Inherit Metab Dis 1993;16:753-761.
    • Barth PG, Hoffmann GF, Jaeken J, Wanders RJA, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, Schutgens RBH, Trefz FK, Hartung HP, Chamoles NA, Sfaello Z, Caruso U: L-2-hydroxyglutaric academia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyglutaric acid dehydrogenase. J Inherit Metab Dis 1993;16:753-761.
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    • D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M: L-2-hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998;40:727-733.
    • D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M: L-2-hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998;40:727-733.
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    • Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease
    • Topcu M, Erdem G, Saatci I, Aktan G, Simsek A, Renda Y, Schutgens RBH, Wanders RJA, Jacobs C: Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 1996;11:373-377.
    • (1996) J Child Neurol , vol.11 , pp. 373-377
    • Topcu, M.1    Erdem, G.2    Saatci, I.3    Aktan, G.4    Simsek, A.5    Renda, Y.6    Schutgens, R.B.H.7    Wanders, R.J.A.8    Jacobs, C.9
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    • Sztriha L, Gururaj A, Vreken P, Nork M, Lestringant GG: L-2-hydroxyglutaric aciduria in two siblings. Paediatr Neurol 2002;27:141-144.
  • 8
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    • In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric aciduria
    • Hanefeld F, Kruse B, Bruhn H, Frahm J: In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric aciduria. Pediatr Res 1994;35:614-616.
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  • 10
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    • Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJA, Prud'homme JF, Lathrop M, Ozguc M, Fischer J: L-2- hydroxyglutaric aciduria: identification of mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 2004;13:2803-2811.
    • Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJA, Prud'homme JF, Lathrop M, Ozguc M, Fischer J: L-2- hydroxyglutaric aciduria: identification of mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 2004;13:2803-2811.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.