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There are 1520 results for: content related to: Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

  1. Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1769–1774, Ignacio Rubio-Agusti, Maja Kojovic, Mark J. Edwards, Elaine Murphy, Hoskote S. Chandrashekar, Robin H. Lachmann and Kailash P. Bhatia

    Article first published online : 2 NOV 2012, DOI: 10.1002/mds.25229

  2. Myoclonus and dystonia in cerebrotendinous xanthomatosis

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1805–1810, Julien Lagarde, Emmanuel Roze, Emmanuelle Apartis, Deepa Pothalil, Frédéric Sedel, Philippe Couvert, Marie Vidailhet and Bertrand Degos

    Article first published online : 31 OCT 2012, DOI: 10.1002/mds.25206

  3. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis

    Clinical Genetics

    Volume 61, Issue 3, March 2002, Pages: 185–191, S Lamon-Fava, EJ Schaefer, R Garuti, G Salen and S Calandra

    Article first published online : 8 MAY 2002, DOI: 10.1034/j.1399-0004.2002.610303.x

  4. Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis

    Acta Paediatrica

    Volume 85, Issue 8, August 1996, Pages: 932–936, AFJ van Heijst, RA Wevers, A Tangerman, JRM Cruysberg, WO Renier and JJM Tolboom

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1996.tb14189.x

  5. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

    European Journal of Neurology

    Volume 18, Issue 10, October 2011, Pages: 1203–1211, B. Pilo-de-la-Fuente, A. Jimenez-Escrig, J. R. Lorenzo, J. Pardo, M. Arias, A. Ares-Luque, J. Duarte, S. Muñiz-Pérez and M. J. Sobrido

    Article first published online : 4 JUN 2011, DOI: 10.1111/j.1468-1331.2011.03439.x

  6. Pregnancy in women with cerebrotendinous xanthomatosis (CTX): High risk condition for fetus and newborn infant?

    American Journal of Medical Genetics

    Volume 31, Issue 1, September 1988, Pages: 11–16, V. M. Berginer, Dr. R. Carmi, G. Salen, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320310104

  7. Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin

    American Journal of Medical Genetics

    Volume 10, Issue 2, 1981, Pages: 151–157, Vladimir M. Berginer, Dr. Dvorah Abeliovich and John M. Opitz

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320100209

  8. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 285–294, Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman and Robert D. Steiner

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31347

  9. THE ULTRASTRUCTURE OF LENS AND IRIS IN CEREBROTENDINOUS XANTHOMATOSIS

    Acta Ophthalmologica

    Volume 55, Issue 2, April 1977, Pages: 201–207, JOHAN H. SELAND and JON E. SLAGSVOLD

    Article first published online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1977.tb01301.x

  10. Epileptic Seizure as a Presenting Symptom of Cerebrotendinous Xanthomatosis

    Epilepsia

    Volume 32, Issue 5, October 1991, Pages: 657–661, A. Arlazoroff, B. Roitberg, E. Werber, R. Shidlo and V. M. Berginer

    Article first published online : 5 NOV 2007, DOI: 10.1111/j.1528-1157.1991.tb04705.x

  11. Accumulation of 7α-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: Effect of treatment with chenodeoxycholic acid

    Hepatology

    Volume 7, Issue 2, March/April 1987, Pages: 266–271, Ingemar Björkhem, Sverre Skrede, Marie S. Buchmann, Cara East and Scott Grundy

    Article first published online : 5 DEC 2005, DOI: 10.1002/hep.1840070210

  12. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 114–117, Lucie Guyant-Maréchal, Aad Verrips, Carole Girard, Ron A. Wevers, Fokje Zijlstra, Erik Sistermans, Pierre Vera, Dominique Campion and Didier Hannequin

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.a.30797

  13. CEREBROTENDINOUS XANTHOMATOSIS (CHOLESTANOLOSIS)

    Acta Neurologica Scandinavica

    Volume 51, Issue 5, May 1975, Pages: 405–416, A. Schreiner, G. Hopen and S. Skrede

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1975.tb01380.x

  14. Neurophysiological study in cerebrotendinous xanthomatosis

    Muscle & Nerve

    Volume 43, Issue 4, April 2011, Pages: 531–536, Belen Pilo, Gema de Blas, Maria Jesus Sobrido, Carmen Navarro, Francisco Grandas, Francisco J. Barrero, Miguel Angel Moya and Adriano Jimenez-Escrig

    Article first published online : 14 MAR 2011, DOI: 10.1002/mus.21905

  15. Magnetic resonance imaging of cerebrotendinous xanthomatosis

    Australasian Radiology

    Volume 39, Issue 1, February 1995, Pages: 61–65, KS Tai, J Brockwell, FL Chan, ED Janus and KSL Lam

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1440-1673.1995.tb00234.x

  16. SUBCELLULAR DISTRIBUTION OF CEREBRAL CHOLE-STANOL IN CEREBROTENDINOUS XANTHOMATOSIS

    Journal of Neurochemistry

    Volume 18, Issue 3, March 1971, Pages: 403–413, W. L. Stahl, S. M. Sumi and P. D. Swanson

    Article first published online : 12 DEC 2006, DOI: 10.1111/j.1471-4159.1971.tb11968.x

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    Determination of serum cholestanol by semi-micro high-performance liquid chromatography with electrochemical detection

    Biomedical Chromatography

    Volume 24, Issue 6, June 2010, Pages: 600–605, Kazuhiro Hojo, Hideki Hakamata, Aya Takahashi, Yu-Ya Hosokawa and Fumiyo Kusu

    Article first published online : 30 SEP 2009, DOI: 10.1002/bmc.1332

  18. Formation and Metabolism of Bile Alcohols in Man

    Hepatology

    Volume 4, Issue 5, September-October 1984, Pages: 966–973, Georg Karlaganis and Jan SjÖVall

    Article first published online : 24 JUL 2008, DOI: 10.1002/hep.1840040531

  19. Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings

    Movement Disorders

    Volume 25, Issue 4, 15 March 2010, Pages: 452–458, Chen-San Su, Wen-Neng Chang, Shu-Hua Huang, Chun-Chung Lui, Tai-Long Pan, Chen-Hsien Lu, Yao-Chung Chuang, Chi-Ren Huang, Nei-Wen Tsai, Mei-Jen Hsieh and Chiung-Chih Chang

    Article first published online : 27 JAN 2010, DOI: 10.1002/mds.22979

  20. Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases

    Acta Neurologica Scandinavica

    Volume 67, Issue 5, May 1983, Pages: 305–311, Horacio M. Canelas, Eder C. R. Quintão, Milberto Scaff, Karin S. Vasconcelos and Mario W. I. Brotto

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1983.tb04580.x