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Volumn 35, Issue 2, 2005, Pages 212-215

Infantile Refsum disease: Serial evaluation with MRI

Author keywords

Brain; Child; Infantile Refsum disease; MRI

Indexed keywords

GADOLINIUM; PHYTANIC ACID; VERY LONG CHAIN FATTY ACID;

EID: 12344319254     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-004-1332-3     Document Type: Article
Times cited : (14)

References (11)
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  • 2
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  • 3
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    • (1946) Acta Psychiatr. Scand. , vol.38
    • Refsum, S.1
  • 4
    • 0025757356 scopus 로고
    • MR findings in infantile Refsum disease: Case report of two family members
    • 1:STN:280:By2C3cbgvFc%3D
    • Dubois J, Sebag G, Argyropoulou M, et al (1991) MR findings in infantile Refsum disease: Case report of two family members AJNR 12:1159-1160 1:STN:280:By2C3cbgvFc%3D
    • (1991) AJNR , vol.12 , pp. 1159-1160
    • Dubois, J.1    Sebag, G.2    Argyropoulou, M.3
  • 5
    • 0035057092 scopus 로고    scopus 로고
    • Refsum's disease in an Arabian family
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    • Fertl E, Foldy D, Auff E, et al (2001) Refsum's disease in an Arabian family. J Neurol Neurosurg Psychiatry 70:564-565 10.1136/jnnp.70.4.564
    • (2001) J. Neurol. Neurosurg. Psychiatry , vol.70 , pp. 564-565
    • Fertl, E.1    Foldy, D.2    Auff, E.3
  • 7
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    • Phytanoyl-coenzyme a hydroxylase deficiency: The enzyme defect in Refsum's disease
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    • Jansen GA, Wanders RJ, Watkins PA, et al (1997) Phytanoyl-coenzyme a hydroxylase deficiency: The enzyme defect in Refsum's disease. N Engl J Med 337:133-134 10.1056/NEJM199707103370215
    • (1997) N. Engl. J. Med. , vol.337 , pp. 133-134
    • Jansen, G.A.1    Wanders, R.J.2    Watkins, P.A.3
  • 8
    • 84984767118 scopus 로고    scopus 로고
    • Identification of PAHX, a Refsum disease gene
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    • Mihalik SJ, Morrell JC, Kim D, et al (1997) Identification of PAHX, a Refsum disease gene. Nat Genet 17:185-189 10.1038/ng1097-185
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  • 9
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    • Infantile Refsum disease
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  • 10
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  • 11
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.