메뉴 건너뛰기




Volumn 43, Issue 2, 2000, Pages 119-120

An adult form of L-2-hydroxyglutaric aciduria revealed by tremor

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

EID: 0034004239     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000008149     Document Type: Article
Times cited : (12)

References (10)
  • 1
    • 0026775751 scopus 로고
    • L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease
    • Barth PG, Hoffmann GF, Jacken J, et al: L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol 1992;32:66-71.
    • (1992) Ann Neurol , vol.32 , pp. 66-71
    • Barth, P.G.1    Hoffmann, G.F.2    Jacken, J.3
  • 2
    • 0030296399 scopus 로고    scopus 로고
    • 2-Hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature
    • Geerts Y, Renier WO, Bakkeren J, de Jong J: 2-Hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci 1996;143:166-169.
    • (1996) J Neurol Sci , vol.143 , pp. 166-169
    • Geerts, Y.1    Renier, W.O.2    Bakkeren, J.3    De Jong, J.4
  • 4
    • 0028069436 scopus 로고
    • Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
    • Kyllerman M, Skjeldal OH, Lundberg M, et al: Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations. Mov Disord 1994;9:22-30.
    • (1994) Mov Disord , vol.9 , pp. 22-30
    • Kyllerman, M.1    Skjeldal, O.H.2    Lundberg, M.3
  • 5
    • 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: L-2-Hydroxyglutarate dehydrogenase: Identification of a novel enzyme activity in rat and human liver: Implications for L-2-hydroxyglutaric acidemia. Biochim Biophys Acta 1993;1225:53-56.
    • (1993) Biochim Biophys Acta , vol.1225 , pp. 53-56
    • Jansen, G.A.1    Wanders, R.J.A.2
  • 6
    • 0030804441 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients
    • Wanders RJA, Vilarinho L, Hartung HP, et al: L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab 1997;20:725-726.
    • (1997) J Inherit Metab , vol.20 , pp. 725-726
    • Wanders, R.J.A.1    Vilarinho, L.2    Hartung, H.P.3
  • 7
    • 0027279451 scopus 로고
    • Stable isotope dilution analysis of D and L hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D-and L-2-hydroxyglutaric acidemias
    • Gibson KM, Tenbrink HJ, Schor DSM, et al: Stable isotope dilution analysis of D and L hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D-and L-2-hydroxyglutaric acidemias. Pediatr Res 1993; 34:277-280.
    • (1993) Pediatr Res , vol.34 , pp. 277-280
    • Gibson, K.M.1    Tenbrink, H.J.2    Schor, D.S.M.3
  • 10
    • 0029671184 scopus 로고    scopus 로고
    • A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria
    • Zhao G, Winkler ME: A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria. J Bacteriol 1996;178:232-239.
    • (1996) J Bacteriol , vol.178 , pp. 232-239
    • Zhao, G.1    Winkler, M.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.