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Volumn 21, Issue 2, 2017, Pages 410-413

An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease

Author keywords

Cranial nerve enhancement; EIF mutation; Immunotherapy; Leukodystrophy; Vanishing white matter disease

Indexed keywords

CORTICOSTEROID; IMMUNOGLOBULIN; STEROID;

EID: 84994531547     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2016.08.012     Document Type: Article
Times cited : (6)

References (8)
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    • 1 Schiffmann, R, Fogli, A, Van der Knaap, MS and Boespflug-Tanguy, O. Childhood ataxia with central nervous system hypomyelination/vanishing white matter. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. Gene Review [Updated 2012 Aug 09].
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  • 3
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    • Identification of ten novel mutations in patients with eIF2B-related disorders
    • 3 Ohlenbusch, A., Henneke, M., Brockmann, K., et al. Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat, 25, 2005, 411.
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    • Ohlenbusch, A.1    Henneke, M.2    Brockmann, K.3
  • 4
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    • The effect of genotype on the natural history of eIF2B-related leukodystrophies
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    • 4 Fogli, A., Schiffmann, R., Bertini, E., et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology, 62, 2004 1509–15173.
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  • 5
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    • Van der Lei, H.W.1    Steenweg, M.E.2    Bugiani, M.3
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  • 7
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    • Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy
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    • 7 Maia, A.C., da Rocha, A.J., da Silva, C.J., et al. Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. Am J Neuroradiol, 28, 2007 999–999.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.