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Volumn 54, Issue 2, 2012, Pages 187-189

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome

Author keywords

[No Author keywords available]

Indexed keywords

RIBOFLAVIN;

EID: 84855615947     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04142.x     Document Type: Article
Times cited : (61)

References (11)
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    • [Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems]
    • In French)
    • Van Laere J. [Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems]. Rev Neurol 1966; 115: 289-95. (In French).
    • (1966) Rev Neurol , vol.115 , pp. 289-295
    • Van Laere, J.1
  • 4
    • 23944509682 scopus 로고    scopus 로고
    • Brown-Vialetto-Van Laere syndrome; variability in onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
    • Dipti S, Childs A, Livingston JH, et al. Brown-Vialetto-Van Laere syndrome; variability in onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 2005; 27: 443-6.
    • (2005) Brain Dev , vol.27 , pp. 443-446
    • Dipti, S.1    Childs, A.2    Livingston, J.H.3
  • 5
    • 42549117636 scopus 로고    scopus 로고
    • Brown-Vialetto-Van Laere syndrome
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    • (2008) Orphanet J Rare Dis , vol.3 , pp. 9
    • Sathasivam, S.1
  • 6
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    • Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance
    • Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet 1990; 27: 176-9.
    • (1990) J Med Genet , vol.27 , pp. 176-179
    • Hawkins, S.A.1    Nevin, N.C.2    Harding, A.E.3
  • 7
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    • 79955911658 scopus 로고    scopus 로고
    • Brown-Vialetto-Van Laere and Fazio-Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
    • Bosch AM, Abeling NG, Ijlst L, et al. Brown-Vialetto-Van Laere and Fazio-Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011; 34: 159-64.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 159-164
    • Bosch, A.M.1    Abeling, N.G.2    Ijlst, L.3
  • 9
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    • Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
    • Green P, Wiseman M, Crow YJ, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010; 86: 485-9.
    • (2010) Am J Hum Genet , vol.86 , pp. 485-489
    • Green, P.1    Wiseman, M.2    Crow, Y.J.3
  • 10
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    • Identification and functional characterization of rat riboflavin transporter 2
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    • Riboflavin deficiency - a reversible neurodegenerative disease
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.