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Volumn 88, Issue 6, 2006, Pages 1340-1344

Cerebrotendinous xanthomatosis: A rare cause of bilateral Achilles tendon swelling and ataxia

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; STEROL 27 HYDROXYLASE; URSODEOXYCHOLIC ACID;

EID: 33744802343     PISSN: 00219355     EISSN: None     Source Type: Journal    
DOI: 10.2106/JBJS.E.00872     Document Type: Article
Times cited : (18)

References (20)
  • 1
    • 0035089564 scopus 로고    scopus 로고
    • Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees
    • Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. J Lipid Res. 2001;42:159-69.
    • (2001) J Lipid Res , vol.42 , pp. 159-169
    • Lee, M.H.1    Hazard, S.2    Carpten, J.D.3    Yi, S.4    Cohen, J.5    Gerhardt, G.T.6    Salen, G.7    Patel, S.B.8
  • 2
    • 33744804726 scopus 로고    scopus 로고
    • Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
    • Scriver CR, Beaudet AL, editors. New York: McGraw-Hill
    • Bjorken I, Boberg KM, Leitersdoef E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p 2970-8.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 2970-2978
    • Bjorken, I.1    Boberg, K.M.2    Leitersdoef, E.3
  • 3
    • 0027376201 scopus 로고
    • Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis
    • Spanish
    • Pardo J, Prieto JM, Rodriguez JR, Vadillo J, Dapena MD, Noya M. [Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis]. Neurologia. 1993;8:268-70. Spanish.
    • (1993) Neurologia , vol.8 , pp. 268-270
    • Pardo, J.1    Prieto, J.M.2    Rodriguez, J.R.3    Vadillo, J.4    Dapena, M.D.5    Noya, M.6
  • 5
    • 0028345558 scopus 로고
    • Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease
    • Meiner V, Meiner Z, Reshef A, Bjorktiem I, Leitersdorf E. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology. 1994;44:288-90.
    • (1994) Neurology , vol.44 , pp. 288-290
    • Meiner, V.1    Meiner, Z.2    Reshef, A.3    Bjorktiem, I.4    Leitersdorf, E.5
  • 7
    • 0030987109 scopus 로고    scopus 로고
    • Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis
    • Chang WN, Lui CC. Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis. J Formos Med Assoc. 1997;96:225-7.
    • (1997) J Formos Med Assoc , vol.96 , pp. 225-227
    • Chang, W.N.1    Lui, C.C.2
  • 8
    • 43949164987 scopus 로고
    • Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
    • Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism. 1993;42:1497-8.
    • (1993) Metabolism , vol.42 , pp. 1497-1498
    • Kuriyama, M.1    Fujiyama, J.2    Kubota, R.3    Nakagawa, M.4    Osame, M.5
  • 9
    • 0018382698 scopus 로고
    • Peripheral neuropathy in cerebrotendinous xanthomatosis
    • Kuritzky A, Berginer VM, Korczyn AD. Peripheral neuropathy in cerebrotendinous xanthomatosis. Neurology. 1979;29:880-1.
    • (1979) Neurology , vol.29 , pp. 880-881
    • Kuritzky, A.1    Berginer, V.M.2    Korczyn, A.D.3
  • 15
    • 0020586748 scopus 로고
    • Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography
    • Wolthers BG, Volmer M, van der Molen J, Koopman BJ, de Jager AE, Waterreus RJ. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. Clin Chim Acta. 1983;131:53-65.
    • (1983) Clin Chim Acta , vol.131 , pp. 53-65
    • Wolthers, B.G.1    Volmer, M.2    Van Der Molen, J.3    Koopman, B.J.4    De Jager, A.E.5    Waterreus, R.J.6
  • 16
    • 0025895604 scopus 로고
    • Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis
    • Nakamura T, Matsuzawa Y, Takemura K, Kubo M, Miki H, Tarui S. Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis. Metabolism. 1991;40:741-6.
    • (1991) Metabolism , vol.40 , pp. 741-746
    • Nakamura, T.1    Matsuzawa, Y.2    Takemura, K.3    Kubo, M.4    Miki, H.5    Tarui, S.6
  • 17
    • 0028112040 scopus 로고
    • Treatment of cerebrotendinous xanthomatosis: Effects of chenodeoxycholic acid, pravastatin, and combined use
    • Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, Osame M. Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. J Neurol Sci. 1994;125:22-8.
    • (1994) J Neurol Sci , vol.125 , pp. 22-28
    • Kuriyama, M.1    Tokimura, Y.2    Fujiyama, J.3    Utatsu, Y.4    Osame, M.5
  • 18
    • 0030023244 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy
    • Watts GF, Mitchell WD, Bending JJ, Reshef A, Leitersdorf E. Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. QJM. 1996;89:55-63.
    • (1996) QJM , vol.89 , pp. 55-63
    • Watts, G.F.1    Mitchell, W.D.2    Bending, J.J.3    Reshef, A.4    Leitersdorf, E.5
  • 19
    • 0025782611 scopus 로고
    • Cerebrotendinous xanthomatosis: Treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings
    • Peynet J, Laurent A, De Liege P, Lecoz P, Gambert P, Legrand A, Mikol J, Warnet A. Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings. Neurology. 1991;41:434-6.
    • (1991) Neurology , vol.41 , pp. 434-436
    • Peynet, J.1    Laurent, A.2    De Liege, P.3    Lecoz, P.4    Gambert, P.5    Legrand, A.6    Mikol, J.7    Warnet, A.8
  • 20
    • 0023229326 scopus 로고
    • Cerebrotendinous xanthomatosis (CTX): A clinical survey of the patient population in the Netherlands
    • Waterreus RJ, Koopman BJ, Wolthers BG, Oosterhuis HJ. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands. Clin Neurol Naurosurg. 1987;89:169-75.
    • (1987) Clin Neurol Naurosurg , vol.89 , pp. 169-175
    • Waterreus, R.J.1    Koopman, B.J.2    Wolthers, B.G.3    Oosterhuis, H.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.