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Archives of Ophthalmology
Volumn 129, Issue 8, 2011, Pages 1087-1088
Cerebrotendinous xanthomatosis: A treatable disease with juvenile cataracts as a presenting sign
Author keywords

[No Author keywords available]
Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; GLUCURONIDE;
EID: 80051573108     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.219     Document Type: Article
Times cited : (16)
References (5)
  • 1
    • 0001003949 scopus 로고    scopus 로고
    • Inborn errors in bile acid synthesis and storage of sterols other than cholesterol
    • Valle D, ed. New York, NY: McGraw-Hill
    • Bjorkhem I, Boberg KM, Leitersdorf E. Inborn errors in bile acid synthesis and storage of sterols other than cholesterol. In: Valle D, ed. The Online Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill; 2001: 2961-2988.
    • (2001) The Online Metabolic and Molecular Basis of Inherited Disease , pp. 2961-2988
    • Bjorkhem, I.1    Boberg, K.M.2    Leitersdorf, E.3
  • 2
    • 33745606740 scopus 로고    scopus 로고
    • Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
    • DOI 10.1007/s10072-006-0618-7
    • 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(2):143-149. (Pubitemid 43983256)
    • (2006) Neurological Sciences , vol.27 , Issue.2 , pp. 143-149
    • Gallus, G.N.1    Dotti, M.T.2    Federico, A.3
  • 3
    • 0036896664 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: Juvenile cataract and chronic diarrhea before the onset of neurologic disease [3]
    • DOI 10.1001/archneur.59.12.1975
    • Cruysberg JR. Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease. Arch Neurol. 2002;59(12):1975. doi:10.1001/archneur.59.12.1975-a. (Pubitemid 35424662)
    • (2002) Archives of Neurology , vol.59 , Issue.12 , pp. 1975
    • Cruysberg, J.R.M.1
  • 4
    • 59449087114 scopus 로고    scopus 로고
    • Chronic diarrhea and juvenile cataracts: Think cerebrotendinous xanthomatosis and treat
    • Berginer VM, Gross B, Morad K, et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009;123(1):143-147.
    • (2009) Pediatrics , vol.123 , Issue.1 , pp. 143-147
    • Berginer, V.M.1    Gross, B.2    Morad, K.3
  • 5
    • 25144451226 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: Possible higher prevalence than previously recognized
    • DOI 10.1001/archneur.62.9.1459
    • Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005;62(9):1459-1463. (Pubitemid 41352065)
    • (2005) Archives of Neurology , vol.62 , Issue.9 , pp. 1459-1463
    • Lorincz, M.T.1    Rainier, S.2    Thomas, D.3    Fink, J.K.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.