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Pedro Valdivielso, Escolar Jl, Valentín Cuervas-Mons, L. Pulpón, Miguel Chaparro, P. González‐Santos (1988)
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R. Garuti, M. Croce, R. Tiozzo, M. Dotti, A. Federico, S. Bertolini, S. Calandra (1997)
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.Journal of lipid research, 38 11
Babiker Babiker, Andersson Andersson, Lund Lund (1997)
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Kyung-Il Kim, R. Hollingsworth (1994)
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Universidad de Málaga, Campus de Teatinos s/n, 29071-Málaga, Spain (fax: 952-131511; e-mail: [email protected])
S. Bahr, T. Movin, N. Papadogiannakis, I. Pikuleva, Per Rönnow, U. Diczfalusy, I. Björkhem (2002)
Mechanism of Accumulation of Cholesterol and Cholestanol in Tendons and the Role of Sterol 27-hydroxylase (CYP27A1)Arteriosclerosis, Thrombosis, and Vascular Biology: Journal of the American Heart Association, 22
A. Babiker, O. Andersson, E. Lund, R. Xiu, Samir Deeb, A. Reshef, E. Leitersdorf, U. Diczfalusy, I. Björkhem (1997)
Elimination of Cholesterol in Macrophages and Endothelial Cells by the Sterol 27-Hydroxylase MechanismThe Journal of Biological Chemistry, 272
I. Björkhem, E. Leitersdorf (2000)
Sterol 27-hydroxylase Deficiency: A Rare Cause of Xanthomas in Normocholesterolemic HumansTrends in Endocrinology & Metabolism, 11
M. Kuriyama, J. Fujiyama, H. Yoshidome, S. Takenaga, K. Matsumuro, T. Kasama, K. Fukuda, T. Kuramoto, T. Hoshita, Y. Seyama, Yosuke Okatu, M. Osame (1991)
Cerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literatureJournal of the Neurological Sciences, 102
Campus de Teatinos s/n, 29071-Málaga
Von Bahr Von Bahr, Movin Movin, Papadogiannakis Papadogiannakis (2002)
Mechanism of accumulation of cholesterol in tendons and the role of sterol 27‐hydroxylase (CYP27A1)Arterioscler Thromb Vasc Biol, 22
Charles R.scriver (1989)
The Metabolic basis of inherited disease
K. Kim, S. Kubota, M. Kuriyama, J. Fujiyama, I. Björkhem, G. Eggertsen, Y. Seyama (1994)
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).Journal of lipid research, 35 6
A. Verrips, R. Wevers, B. Engelen, A. Keyser, B. Wolthers, F. Barkhof, A. Stalenhoef, R. Graaf, F. Janssen-Zijlstra, A. Spreeken, F. Gabreëls (1999)
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Kuriyama Kuriyama, Fujiyama Fujiyama, Yoshidome Yoshidome (1991)
Cerebrotendinous xanthomatosis: clinical and biochemical study of 8 patients and review of the literatureJ Neurol Sci, 102
M. Moghadasian, G. Salen, J. Frohlich, C. Scudamore (2002)
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I. Björkhem, K. Boberg, E. Leitersdorf (2001)
Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
J. Fujiyama, M. Kuriyama, S. Arima, Y. Shibata, K. Nagata, S. Takenaga, H. Tanaka, M. Osame (1991)
Atherogenic risk factors in cerebrotendinous xanthomatosis.Clinica chimica acta; international journal of clinical chemistry, 200 1
John Burnett, Esther Moses, K. Croft, Andrew Brown, Keith Grainger, S. Vasikaran, Eran Leitersdorf, Gerald Watts (2001)
Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis.Clinica chimica acta; international journal of clinical chemistry, 306 1-2
Abstract. Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia. However, a few patients develop severe and premature arteriosclerosis in spite of absence of common risk factors. Here, we present the clinical, analytical and molecular features of a 36‐years‐old man who died from advanced ischaemic heart disease as a result of cerebrotendinous xanthomatosis (CTX), a rare condition characterized by elevation in plasma and most tissues of cholestanol and where neurological impairment is the hallmark of this disease. We discuss the relevance of heart disease and the mechanism leading to accelerate arteriosclerosis is CTX.
Journal of Internal Medicine – Wiley
Published: Jun 1, 2004
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