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Volumn 79, Issue 4, 2008, Pages 448-450

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; ALKANOIC ACID; PHENOBARBITAL; PHYTANIC ACID; PRISTANIC ACID; UNCLASSIFIED DRUG;

EID: 41149126674     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.129478     Document Type: Article
Times cited : (33)

References (9)
  • 1
    • 0034815130 scopus 로고    scopus 로고
    • Human metabolism of phytanic acid and pristanic acid
    • Verhoeven NM, Jakobs C. Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res 2001;40:453-66.
    • (2001) Prog Lipid Res , vol.40 , pp. 453-466
    • Verhoeven, N.M.1    Jakobs, C.2
  • 2
    • 3242705763 scopus 로고    scopus 로고
    • Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency
    • Clarke CE, Alger S, Preece MA, et al. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology 2004;63:188-9.
    • (2004) Neurology , vol.63 , pp. 188-189
    • Clarke, C.E.1    Alger, S.2    Preece, M.A.3
  • 3
    • 0033973970 scopus 로고    scopus 로고
    • Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
    • Ferdinandusse S, Denis S, Clayton PT, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 2000;24:188-91.
    • (2000) Nat Genet , vol.24 , pp. 188-191
    • Ferdinandusse, S.1    Denis, S.2    Clayton, P.T.3
  • 5
    • 0034864582 scopus 로고    scopus 로고
    • Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: Possible link between racemase deficiency and malabsorption and vitamin K deficiency
    • Van Veldhoven PP, Meyhi E, Squires RH, et al. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur J Clin Invest 2001;31:714-22.
    • (2001) Eur J Clin Invest , vol.31 , pp. 714-722
    • Van Veldhoven, P.P.1    Meyhi, E.2    Squires, R.H.3
  • 7
    • 0037147188 scopus 로고    scopus 로고
    • Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells
    • Idel S, Ellinghaus P, Wolfrum C, et al. Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells. J Biol Chem 2002;277:49319-25.
    • (2002) J Biol Chem , vol.277 , pp. 49319-49325
    • Idel, S.1    Ellinghaus, P.2    Wolfrum, C.3
  • 8
    • 6344243204 scopus 로고    scopus 로고
    • In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition
    • Schonfeld P, Kahlen S, Reiser G. In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition. Biochem J 2004;383:121-8.
    • (2004) Biochem J , vol.383 , pp. 121-128
    • Schonfeld, P.1    Kahlen, S.2    Reiser, G.3
  • 9
    • 0030927752 scopus 로고    scopus 로고
    • Refsum's disease: Long term treatment preserves sensory nerve action potentials and motor function
    • Lou JS, Snyder R, Griggs RC. Refsum's disease: long term treatment preserves sensory nerve action potentials and motor function. J Neurol Neurosurg Psychiatry 1997;62:671-2.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 671-672
    • Lou, J.S.1    Snyder, R.2    Griggs, R.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.