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There are 37302 results for: content related to: Mutation identification of Fabry disease in families with other lysosomal storage disorders

  1. FABRY DISEASE

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 106–113,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_2.x

  2. Poster abstracts

    Acta Paediatrica

    Volume 94, Issue s447, March 2005, Pages: 95–133,

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2005.tb02120.x

  3. Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

    British Journal of Dermatology

    Volume 166, Issue 4, April 2012, Pages: 712–720, A. Zampetti, C.H. Orteu, D. Antuzzi, M.R. Bongiorno, S. Manco, M. Gnarra, A. Morrone, G. Cardinali, D. Kovacs, N. Aspite, D. Linder, R. Parini, C. Feliciani and the Interdisciplinary Study Group on Fabry Disease (ISGF)

    Version of Record online : 27 MAR 2012, DOI: 10.1111/j.1365-2133.2012.10742.x

  4. FABRY DISEASE: GENOTYPE-PHENOTYPE STUDIES; EPIDEMIOLOGY; SCREENING AND MANAGEMENT

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 93–97,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_1.x

  5. MUCOPOLYSACCHARIDE DISORDERS AND OTHER LYSOSOMAL STORAGE DISEASES

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 111–112,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_8.x

  6. FABRY DISEASE: EFFICACY OF ENZYME REPLACEMENT THERAPY

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 102–105,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_4.x

  7. Does geographical location influence the phenotype of Fabry disease in women in Europe?

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 131–140, M-Á Barba-Romero, P Deegan, R Giugliani and D Hughes

    Version of Record online : 11 JAN 2010, DOI: 10.1111/j.1399-0004.2009.01345.x

  8. MUCOPOLYSACCHARIDOSIS DISORDERS

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 97–105,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_1.x

  9. OTHER LYSOSOMAL STORAGE DISEASES

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 119–122,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_4.x

  10. FABRY DISEASE: SKIN MANIFESTATIONS; CARDIAC DISEASE; CASE REPORTS

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 100–102,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_3.x

  11. GAUCHER DISEASE

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 114–118,

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00657_3.x

  12. FABRY DISEASE: PATHOPHYSIOLOGY; CNS MANIFESTATIONS; ENZYMES FOR REPLACEMENT THERAPY

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 98–99,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_2.x

  13. The kidney in Fabry's disease

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 301–309, A. Pisani, B. Visciano, M. Imbriaco, A. Di Nuzzi, A. Mancini, C. Marchetiello and E. Riccio

    Version of Record online : 30 MAY 2014, DOI: 10.1111/cge.12386

  14. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre

    Clinical & Experimental Ophthalmology

    Volume 33, Issue 2, April 2005, Pages: 164–168, Thanh T Nguyen, Trevor Gin, Kathy Nicholls, Michael Low, Jason Galanos and Andrew Crawford

    Version of Record online : 4 APR 2005, DOI: 10.1111/j.1442-9071.2005.00990.x

  15. Heterozygote detection in fabry disease utilizing multiple enzyme activities

    American Journal of Medical Genetics

    Volume 10, Issue 2, 1981, Pages: 141–146, Dr. Kumudchandra J. Sheth, Thomas A. Good, Jerome V. Murphy and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320100207

  16. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

    Acta Paediatrica

    Volume 95, Issue 1, January 2006, Pages: 86–92, Uma Ramaswami, Catharina Whybra, Rosella Parini, Guillem Pintos-Morell, Atul Mehta, Gere Sunder-Plassmann, Urs Widmer, Michael Beck and ON BEHALF OF THE FOS EUROPEAN INVESTIGATORS

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2006.tb02186.x

  17. Metabolic and Nutritional Disorders

    Rook's Textbook of Dermatology, Seventh Edition

    R. P. E. Sarkany, S. M. Breathnach, C. A. Seymour, K. Weismann, D. A. Burns, Pages: 2845–2968, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch57

  18. Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases

    Acta Paediatrica

    Volume 92, Issue s443, December 2003, Pages: 46–53, M Elleder

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2003.tb00222.x

  19. MUCOPOLYSACCHARIDOSIS TYPE II

    Acta Paediatrica

    Volume 96, Issue s455, April 2007, Pages: 109–111,

    Version of Record online : 23 MAR 2007, DOI: 10.1111/j.1651-2227.2006.00219_7.x

  20. You have free access to this content
    Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    European Journal of Heart Failure

    Volume 12, Issue 6, June 2010, Pages: 535–540, Ole Havndrup, Michael Christiansen, Birgitte Stoevring, Morten Jensen, Jakob Hoffman-Bang, Paal Skytt Andersen, Lis Hasholt, Anne Nørremølle, Ulla Feldt-Rasmussen, Lars Køber and Henning Bundgaard

    Version of Record online : 13 JAN 2014, DOI: 10.1093/eurjhf/hfq073