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Expert Fabry en Romandie

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Dr méd Frédéric Barbey

Spécialiste FMH en médecine interne et néphrologie
Division de Pédiatrie Moléculaire
Av Pierre Decker 2
1011 Lausanne

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Publications

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Maladies de Fabry : principaux abstracts et communications orales

  1. A.Kistler, H Mischak, F.Breunig, D.Hughes, F.Barbey, R.Wüthrich, A.Serra. Identification of biomarkers for Fabry disease by urine proteomics.9th International Symposium on Lysosomal Storage Diseases. Frankfurt, 24-25th April 2009.
  2. M.Cibulla, K.Walter, A.Schwarting, F.Barbey, R.DiVito, S.Ferriozzi. Chronic dialysis treatment in patients with Fabry disease. Italian Renal Meeting. October 6-10th 2008, Bari, Italy.
  3. M.Cybulla, A.Schwarting, F.Barbey, S.Feriozzi, G.Sunder-Plassmann, M.West. Proteinuria in Fabry Nephropathy during Enzyme Replacement Therapy with agalsidase alfa. Italian Renal Meeting. October 6-10th 2008, Bari, Italy.
  4. F.Barbey. Maladie de Fabry et néphropathie. 1er Symposium Lausannois de la Maladie de Fabry. CHUV, Lausanne. 5 Juin 2008.
  5. F. Barbey. Fabry disease. Early indications of disease in the kidney. International workshop on lysosomal storage disorders. Brussels, 16-17th November 2007.
  6. F. Barbey. Fabry nephropathy. 2nd Swiss Fabry Workshop. Zürich September 15th, 2007
  7. JP Oliveira, D. Warnock, C. Valbuena, L. Bostad, S. Moll, M. West, S. Waldek, LH Noel, F. Breunig, E. Svarstad, F. Barbey, L. Geldenhuys, R. Reeve, JP Grünfeld, J. Müller, A. Fogo. Developing a chronicity index for kidney involvement in Fabry disease: The international Fabry biopsy working group. World Congress of Nephrology. Rio de Janeiro, April 21-25th 2007.
  8. A. Fogo, JP Oliveira, F. Barbey, L. Bostad, F. Breunig, W. Cook, L. Geldenhuys, JP Grünfeld, J. Müller, LH Noël, R. Reeve, E. Svarstad, C. Valbuena, S. Waldek, M. West, D. Warnock. Developing a chronicity index for kidney involvement in Fabry disease: report of the international Fabry Biopsy Working Group (IFBWG). American Society of Nephrology. San Diego November 16-19th 2006.
  9. M. Cybulla, K. Walter, A. Schwarting, F. Barbey, R. Di Vito, S. Feriozzi, H. Neumann, G. Sunder-Plassmann. Kidney transplantation in patients with Fabry disease. XLIII ERA-EDTA. Glasgow UK, July 15-18th , 2006.
  10. M. Cybulla, K. Walter, A. Schwarting, F. Barbey, R. Di Vito, S. Feriozzi, H. Neumann, G. Sunder-Plassmann. Chronic dialysis treatment in patients with Fabry disease. XLIII ERA-EDTA. Glasgow UK, July 15-18th , 2006.
  11. F. Barbey. Fabry disease and its treatment – a concern for nephrologists. Shire symposium. XLIII ERA-EDTA. Glasgow UK, July 16th , 2006.
  12. F. Barbey. Fabry disease: natural course and follow-up of Fabry disease in Switzerland. Shire symposium. SSMI. Lausanne, May 10th , 2006.
  13. F. Barbey. Early ERT in children with Fabry disease. International Workshop on Lysosomal Storage Disease Athens, November 4-5, 2005
  14. S. Feriozzi, F. Barbey, R. Di Vito, K. Benistan, R. Ricci, DP. Germain. Cystatin C as a marker of renal function in patients with Fabry disease. 5th International Symposium Lysosomal disease, Valencia, April 2005. Acta Paediatrica Suppl 451: 2006
  15. N. Brakch, F. Barbey, A. Linhart, M. Burnier, D. Hayoz: Absence of carotid plaques in adult Fabry population. 6th European Round Table on Fabry disease Geneva, October 21-22, 2005. Présentation orale.
  16. F. Barbey. Fabry disease: unresolved issues. European expert meeting on Fabry disease. September 30-October 1, 2005. Dubrovnik
  17. P. Meylan, JD Aubert, F. Barbey, C. Seydoux, A. Bissery, R. Sahli. Determinants of transiant EBV DNA load rise in the blood of recipients after organ transplantations. Swiss infection conference, Basel June 8-10th, 2005
  18. S. Feriozzi, F. Barbey, R. Di Vito, R. Ricci, DP Germain. Cystatin C as a marker of renal function in patients with Fabry disease. 5th International Symposium on Lysosomal Storage Diseases, Valencia April 15-16th, 2005
  19. F. Barbey. Renal biopsy study in Fabry disease and pulmonary function in Fabry disease. Swiss Fabry Workshop, Saas Fee April 2nd, 2005
  20. F. Barbey, U. Widmer, TH Brack, B. Vogt, JD Aubert. Spirometric abnormalities in patients with Fabry disease and effect of enzyme replacement therapy. Lysosomal Storage Diseases: 4th International Symposium, Seville, April 2004. Acta Paediatrica 2005; 94 (Suppl. 447): 105
  21. R. Jaussaud, O. Lidove, F. Barbey, P. Kaminsky, E. Hachulla, E. Goizet, E. Noel, E. Andres, L. Mouthon, D. Lacombe. Fabry disease – from diagnosis to treatment: analysis of 19 families in France and Switzerland. Lysosomal Storage Diseases: 4th International Symposium, Seville, April 2004. Acta Paediatrica 2005; 94 (Suppl. 447).
  22. F. Barbey. Renal biopsies in Fabry patients – considerations and findings. State-of-the-art Expert meeting on Fabry disease, Barcelona October 1, 2004
  23. R. Jaussaud, O. Lidove, F. Barbey, P. Kaminsky, E. Hachulla, E. Goizet, E. Noel, E. Andres, L. Mouthon, D. Lacombe. Fabry disease – analyse of 19 families in France and Switzerland: from diagnosis to treatment. 27th World Congress of Internal Medicine, Granada 2004, September 26th – October 1st
  24. F. Barbey, X. Jeanrenaud, A. Linhart, N. Brakch, S. Qanadly, D. Hayoz. Cardiac and vascular modifications in Fabry disease: beyond a simple storage disorder. Annual Meeting of the Working Group of Echocardiography, Swiss Society of Cardiology, Basel June 2nd – 4th, 2004
  25. F. Barbey. What about guidelines? Expert Meeting on Fabry disease, Paris September 17-18, 2004
  26. O. Lidove, R. Jaussaud, F. Barbey, P. Kaminsky, E. Hachulla, E. Goizet, E. Noel, E. Andres, L. Mouthon, D. Lacombe. Maladie de Fabry. Analyse sémiologique de 17 familles en France et en Suisse. 50ème congrès de la Société Nationale Française de Médecine Interne, Bruges 2004. La Revue de Médecine Interne 2004; 25 (Suppl 1): S37-38
  27. F. Barbey. Update on Safety. 2nd FOS Investigators Meeting, Sitges 24 January, 2004
  28. F. Barbey, U. Widmer, E. Haesler, X. Jeanrenaud, S. Qanadly, M. Burnier, D. Hayoz Dilation of the ascending aorta in Fabry disease. Lysosomal Storage Diseases: 3rd International Symposium, Santiago de Compostela, May 2003. Acta Paediatrica 2003; Suppl 443: 101
  29. E. Rizzo, F. Barbey, D. Hayoz, E. Haessler, D. Teta, SD Qanadly. Characterization of cardiovascular structural changes in Fabry disease with MRI and high resolution ultrasound: a storage disorder and/or a trophic alteration ? Annual Meeting and Postgraduate Course of the Cardiovascular and Interventional Radiological Society of Europe, 20-24 of September 2003, Belek-Antalya, Turkey
  30. F. Barbey. When to start ERT in Fabry disease ? International Workshop on Fabry disease, Palma de Mallorca, October 10-11, 2003
  31. F. Barbey. Maladie de Fabry: actualités thérapeutiques. Symposium. Journées Dermatologiques de Paris, 5 décembre, 2003
  32. F. Barbey. Are there any side effects of ERT ? 2nd International Fabry Patient Meeting, Sitges October 23-26, 2003
  33. F. Barbey. Respiratory problems in Fabry disease. International Workshop on Enzyme Replacement Therapy in Fabry disease, Barcelona, September 13-14, 2002
  34. F. Barbey. Lausanne Fabry cohort: pulmonary data. Fabry Investigators Meeting, Zürich November 23rd, 2002
  35. F. Barbey, O. Lidove, S. Wicky, J. Theytaz, JD Aubert. Pulmonary involvement in Fabry disease. Lysosomal Storage Diseses: 2nd International Symposium, Cannes, April 2002. Acta Paediatr 2002 ; Suppl 439: 127
  36. F. Barbey, E. Haesler, D. Teta, S. Wicky, J. Theytaz, D. Hayoz. Severity of macrovascular involvement in Fabry disease: is there a correlation with interventricular septum thickness ? Lysosomal Storage Disease: 2nd International Symposium, Cannes, April 2002. Acta Paediatr 2002; Suppl 439: 132
  37. O. Lidove, D. Joly, F. Barbey. Influence of blood group B or AB on phenotype in a population of hemizygous patients with Fabry disease. Lysosomal Storage Diseases: 2nd International Symposium, Cannes, April 2002. Acta Paediatr 2002; Suppl 439: 124
  38. F. Barbey, O. Lidove, JP Grünfeld. La maladie de Fabry : nouveautés thérapeutiques. 3ème réunion commune Société de Néphrologie et Société Francophone de Dialyse, 3-5 octobre 2001, Montpellier. Néphrologie 2001; 22: A5
  39. O. Lidove, D. Joly, F. Barbey. Infectious endocarditis: a complication of Fabry disease. Lysosomal Storage Diseases; 1st International Symposium, Seville, April 2001. J Inherit Metab Dis 2001; 24 Suppl 2
  40. O. Lidove, D. Joly, F. Barbey. Maladie de Fabry: physiopathologie. 4ème Ecole Nationale sur les Erreurs Innées du Métabolisme, Sfax, 26-27 octobre 2001
  41. O. Lidove, D. Joly, D. Droz, F. Barbey, JP Grünfeld. Cardiac, neurologic, and psychiatric manifestations in Fabry disease. J Am Soc Nephrol 1999; 10: A2207
  42. O. Lidove, F. Barbey, JP Grünfeld. Maladie de Fabry: aspects cliniques et thérapeutiques. 1ère rencontre de la Société de Néphrologie Pédiatrique et de la Société Française des Erreurs Innées du Métabolisme. Lyon, 8-9 avril 1999.

Publications maladie de Fabry

  1. Franzen D, Krayenbuehl PA, Lidove O, Aubert JD, Barbey F. Pulmonary involvement in Fabry disease: Overview and perspectives. Eur J Intern Med. 2013 May.
  2. Chévrier M, Brakch N, Lesueur C, Genty D, Ramdani Y, Moll S, Djavaheri-Mergny M, Brasse-Lagnel C, Laquerrière A, Barbey F, Bekri S. Autophagosome maturation is impaired in Fabry disease. Autophagy. 2010 Jul 1;6(5) : 589-99
  3. N.Brakch, O.Dormond, S.Bekri, D.Golshayan, L.Mazzolai, B.Steinmann, F.Barbey. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J. 2010 Jan;31(1): 67-76
  4. Barbey F, Qanadli SD, Juli C, Brakch N, Palacek T, Rizzo E, Jeanrenaud X, Eckhardt B, Linhart A. Aortic remodelling in Fabry disease. Eur Heart J. 2010 Feb;31(3): 347-53
  5. Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG; all members of the International Study Group of Fabry Nephropathy (ISGFN). Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant. 2010 ; 25 (7) : 2168-77
  6. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet. 2009 Dec 12; 374 (9706):1986-96
  7. F.Barbey, O.Lidove, A Schwarting. Fabry nephropathy: 5 years of enzyme replacement therapy – short review. Nephrol Dial Transplant Plus. 2008; 1: 11-19
  8. S. Feriozzi, DP. Germain, R. Di Vito, K. Benistan, R. Ricci, F. Barbey. Cystatin C as a marker of early changes of renal function in patients with Fabry disease. J Nephrol 2007; 20: 437-43.
  9. O.Lidove, D.Joly, F.Barbey, S.Bekri, JF.Alexandra, V.Peigne, R.Jaussaud, T.Papo. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract. 2007 Feb;61(2):293-302
  10. O. Lidove, U.Ramaswami, R. Jaussaud, F. Barbey, T. Maisonobe, C. Caillaud, M. Beck, G. Sunder-Plasmann, A. Linhart, A. Mehta. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from FOS_the Fabry Outcome Survey. Int. J. Clin. Practice 2006; 60(9): 1053-59
  11. S. Bekri, O. Lidove, R. Jaussaud, B. Knebelmann, F. Barbey. The role of globotriaosylceramide in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Curr Med Chem Cardiovasc Hemat Agents. 2006; 4: 289-97.
  12. F. Barbey, N. Brakch , A. Linhart, N. Rosenblatt-Velin, X. Jeanrenaud, S. Qanadly, B. Steinmann, M. Burnier, T. Palecek, J. Bultas, D. Hayoz. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscl Throm Vasc Biol. 2006; 4 : 839-44.
  13. F. Barbey, N. Brakch, A Linhart, T Palecek, J. Bultas, M. Burnier, D. Hayoz Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult Fabry population. Acta Paediatr. 2006; Suppl 451: 63-68
  14. F. Barbey, D. Hayoz, U. Widmer, M. Burnier. Efficacy of enzyme replacement therapy in Fabry disease. Curr Med Chem Cardiovasc Hematol Agents. 2004 Oct;2(4):277-86.
  15. O. Lidove, D. Joly, F. Barbey, O. Bletry, J.P. Grünfeld. Fabry disease in adulthood: clinical aspects and therapeutic progress. Rev Med Interne. 2001 Dec;22 Suppl 3:384s-392s.
  16. J.P. Grünfeld, O. Lidove, F. Barbey Heterozygotes with Fabry’s disease. Contrib Nephrol. 2001;(136):208-10.
  17. J.P. Grünfeld, O. Lidove, D. Joly, F. Barbey. Renal disease in Fabry patients. J Inherit Metab Dis. 2001;24 Suppl 2:71-4
  18. F. Barbey, O. Lidove, D. Droz, J.P. Grünfeld. Fabry disease: clinical aspects and therapeutic perspectives. Schweiz Med Wochenschr. 2000 May 27;130(21):763-71.
  19. F. Barbey, U. Widmer, M. Burnier, O. Lidove. Fabry disease: diagnostic due of substitutive enzyme-therapy. Rev Med Suisse Romande. 2002 Sep;122(9):449-53.
  20. U. Widmer, F. Barbey, P. Ferrari, B. Steinmann. Definition, Diagnose und Therapie des Morbus Fabry. Hospitalis 2002; 72: 287-90
  21. JD Aubert, F. Barbey : Pulmonary Involvement in Fabry Disease in: Fabry Disease – Perspectives from 5 years of FOS. Chapter 27: 263-70. Oxford PharmaGenesis 2006.
  22. F. Barbey, F. Livio: Safety of Enzyme Replacement Therapy in Fabry Disease – Perspectives from 5 years of FOS. Chapter 41: 395-404. Oxford PharmaGenesis 2006.
  23. La maladie de Fabry: un livret pour les parents et les patients. 2003 AIRG.

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