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Volumn 24, Issue 10, 2003, Pages 2082-2084

Infantile Refsum Disease: Case Report

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC VALUE; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; ELECTRORETINOGRAPHY; FEMALE; FOLLOW UP; HUMAN; IMAGE ANALYSIS; INBORN ERROR OF METABOLISM; INFANTILE REFSUM DISEASE; MALE; MEDICAL EXAMINATION; MENTAL DEFICIENCY; MOTOR RETARDATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; WHITE MATTER;

EID: 0344823712     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (20)

References (8)
  • 3
    • 0030745425 scopus 로고    scopus 로고
    • Phytanoylcoenzyme a hydroxylase deficiency: The enzyme defect in Refsum's disease
    • Jansen GA, Wanders RJA, Watkins PA, Mihalik SJ. Phytanoylcoenzyme a hydroxylase deficiency: the enzyme defect in Refsum's disease. N Engl J Med 1997;337:133-134
    • (1997) N Engl J Med , vol.337 , pp. 133-134
    • Jansen, G.A.1    Wanders, R.J.A.2    Watkins, P.A.3    Mihalik, S.J.4
  • 4
    • 0025757356 scopus 로고
    • MR findings in infantile Refsum disease: Case report of two family members
    • Dubois J, Sebag G, Argyropoulou M, Brunelle F. MR findings in infantile Refsum disease: case report of two family members AJNR Am J Neuroradiol 1991;12:1159-1160
    • (1991) AJNR Am J Neuroradiol , vol.12 , pp. 1159-1160
    • Dubois, J.1    Sebag, G.2    Argyropoulou, M.3    Brunelle, F.4
  • 6
    • 0025282361 scopus 로고
    • Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)
    • Plant GR, Hansell DM, Gibberd FB, Sidey MC. Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis). Br J Radiol 1990;63:537-541
    • (1990) Br J Radiol , vol.63 , pp. 537-541
    • Plant, G.R.1    Hansell, D.M.2    Gibberd, F.B.3    Sidey, M.C.4
  • 8
    • 0023917834 scopus 로고
    • Infantile Refsum disease: A generalized peroxisomal disorder: Report of a case with postmortem examination
    • Torvik A, Torp S, Kase BF, et al. Infantile Refsum disease: a generalized peroxisomal disorder: report of a case with postmortem examination. J Neurol Sci 1988;85:39-53
    • (1988) J Neurol Sci , vol.85 , pp. 39-53
    • Torvik, A.1    Torp, S.2    Kase, B.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.