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Volumn 11, Issue 5, 2011, Pages 296-300

A neurological rarity not to be missed: Cerebrotendinous xanthomatosis

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL;

EID: 80052831066     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/practneurol-2011-000003     Document Type: Article
Times cited : (17)

References (6)
  • 1
    • 33745606740 scopus 로고    scopus 로고
    • Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
    • Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006;27:143-149.
    • (2006) Neurol Sci , vol.27 , pp. 143-149
    • Gallus, G.N.1    Dotti, M.T.2    Federico, A.3
  • 2
    • 0034036188 scopus 로고    scopus 로고
    • Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
    • Verrips A, van Engelen BG, Wevers RA, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol 2000;57:520-524.
    • (2000) Arch Neurol , vol.57 , pp. 520-524
    • Verrips, A.1    van Engelen, B.G.2    Wevers, R.A.3
  • 4
    • 0021707122 scopus 로고
    • Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
    • Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984;311:1649-1652.
    • (1984) N Engl J Med , vol.311 , pp. 1649-1652
    • Berginer, V.M.1    Salen, G.2    Shefer, S.3
  • 5
    • 78649587875 scopus 로고    scopus 로고
    • Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
    • Guerrera S, Stromillo ML, Mignarri A, et al. Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatr 2010;81: 1189-1193.
    • (2010) J Neurol Neurosurg Psychiatr , vol.81 , pp. 1189-1193
    • Guerrera, S.1    Stromillo, M.L.2    Mignarri, A.3
  • 6
    • 0035188015 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis
    • De Stefano N, Dotti MT, Mortilla M, et al. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001;124:121-131
    • (2001) Brain , vol.124 , pp. 121-131
    • de Stefano, N.1    Dotti, M.T.2    Mortilla, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.