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Volumn 21, Issue 2, 2000, Pages 103-108

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria

Author keywords

L 2 hydroxyglutaric aciduria; Leukodystrophy; Magnetic resonance imaging

Indexed keywords

2 HYDROXYGLUTARIC ACID; ALPHA-HYDROXYGLUTARATE; GLUTARIC ACID DERIVATIVE;

EID: 0034166491     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720070104     Document Type: Article
Times cited : (55)

References (12)
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    • Leukodystrophy associated with hyperlysinorrachia and 2-hydroxyglutaric aciduria
    • Jaeken J, Willekens H, Corbeel L (1988) Leukodystrophy associated with hyperlysinorrachia and 2-hydroxyglutaric aciduria. Pediatr Res 24:266
    • (1988) Pediatr Res , vol.24 , pp. 266
    • Jaeken, J.1    Willekens, H.2    Corbeel, L.3
  • 7
    • 0030994414 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
    • Barbot C, Fineza I, Diogo L, Maia M, Melo J, Gumaraes A, Pires MM, Cardoso ML, Vilarinho L (1997) L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 19:268-273
    • (1997) Brain Dev , vol.19 , pp. 268-273
    • Barbot, C.1    Fineza, I.2    Diogo, L.3    Maia, M.4    Melo, J.5    Gumaraes, A.6    Pires, M.M.7    Cardoso, M.L.8    Vilarinho, L.9
  • 9
    • 0022647220 scopus 로고
    • Systemic carnitine deficiency due to lack of electron transfer flavoprotein: Ubiquinone oxidoreductase
    • Di Donato S, Frerman FE, Rimoldi M (1986) Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase. Neurology 36:957-963
    • (1986) Neurology , vol.36 , pp. 957-963
    • Di Donato, S.1    Frerman, F.E.2    Rimoldi, M.3
  • 11
    • 0029967374 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
    • Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovic AJ, Cox VA, Packman S (1996) L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 19:335-343
    • (1996) J Inherit Metab Dis , vol.19 , pp. 335-343
    • Chen, E.1    Nyhan, W.L.2    Jakobs, C.3    Greco, C.M.4    Barkovic, A.J.5    Cox, V.A.6    Packman, S.7
  • 12
    • 0027333003 scopus 로고
    • L-2-Hydroxyglutarate dehydrogenase: Identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia
    • Jansen GA, Wanders RJA (1993) L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. Biochim Biophys Acta 1225:53-56
    • (1993) Biochim Biophys Acta , vol.1225 , pp. 53-56
    • Jansen, G.A.1    Wanders, R.J.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.