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Fabry disease

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Specialized doctors worldwide

Who is researching Fabry disease? Everyone here comes from a public registry: as principal investigator of a study at ClinicalTrials.gov, or as last author of publications in PubMed. Those are two different things, so we list them in two columns side by side instead of merging them into one number.

This is not a referral and not a judgment on care. We know nothing about how these people treat, whether they accept patients, or how to reach them. We do not display contact details. If you want a second opinion or a referral, go through your own specialist.

Leads the most studies

Registered as principal investigator at ClinicalTrials.gov. Setting up and running a study is years of work.

  1. 1 Arndt Rolfs University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration leads 3 studies register →
  2. 2 Caroline M Kistorp Rigshospitalet, Denmark leads 3 studies register →
  3. 3 Ozlem Goker-Alpan Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), United States leads 3 studies register →
  4. 4 Eva Brand University Hospital Muenster, Germany leads 2 studies · 15 publications as last author register →
  5. 5 Antonio Pisani Università degli Studi di Napoli "Federico II" NAPOLI, Italy leads 2 studies · 12 publications as last author register →
  6. 6 David G Warnock University of Alabama at Birmingham, United States leads 2 studies · 5 publications as last author register →
  7. 7 Peter Nordbeck Wuerzburg University Hospital, Germany leads 2 studies · 4 publications as last author register →
  8. 8 Michael L West Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada leads 2 studies · 4 publications as last author register →
  9. 9 Elena Biagini IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy leads 2 studies · 4 publications as last author register →
  10. 10 Geu-Ru Hong Severance Hospital, South Korea leads 2 studies · 3 publications as last author register →

Also leading

  1. 11 Daniel Franzen University Hospital Zurich, Division of Internal Medicine, Switzerland leads 2 studies register →
  2. 12 Olivier Lidove Groupe Hospitalier Diaconnesses Croix Saint Simon, France leads 2 studies register →
  3. 13 Renuka Limgala LDRTC, United States leads 2 studies register →
  4. 14 Ulla Feldt-Rasmussen, MD,DMSc,Prof Department of Medical Endocrinology, Denmark leads 2 studies register →
  5. 15 Francesca Graziani FPG, Italy leads 1 study · 11 publications as last author register →
  6. 16 Dominique P GERMAIN Fabry Disease and Hereditary Connective Tissue Disease Reference Centre. Assistance Publique Hopitaux de Paris, France leads 1 study · 5 publications as last author register →
  7. 17 Antonino Tuttolomondo A.O.U. Policlinico "Giaccone" PALERMO, Italy leads 1 study · 5 publications as last author register →
  8. 18 Richard P Steeds University Hospital Birmingham NHS Foundation Trust, United Kingdom leads 1 study · 5 publications as last author register →
  9. 19 Aleš Linhart General University Hospital, Prague, Czech Republic leads 1 study · 5 publications as last author register →
  10. 20 Alex PW Lee Chinese University of Hong Kong leads 1 study register →
  11. 21 Antonia Camporeale IRCCS Policlinico S. Donato, Italy leads 1 study register →
  12. 22 Behzad Najafian University of Washington Associate Professor, Pathology, United States leads 1 study register →
  13. 23 Davide Noto A.O.U. Policlinico "Giaccone" PALERMO, Italy leads 1 study register →
  14. 24 Eleonora Riccio Federico II University, Italy leads 1 study register →
  15. 25 Elisabete Martins Universidade do Porto, Portugal leads 1 study register →

Publishes most about this disease

Counted as last author on publications from the last five years — in medicine the leader of the research group. This also includes physicians who do not register studies but do advance the field.

  1. 1 Eva Brand University Hospital Muenster, Germany leads 2 studies · 15 publications as last author register →
  2. 2 Nurcan Üçeyler University Hospital Würzburg, Germany 13 publications as last author PubMed →
  3. 3 Antonio Pisani Università degli Studi di Napoli "Federico II" NAPOLI, Italy leads 2 studies · 12 publications as last author register →
  4. 4 Francesca Graziani FPG, Italy leads 1 study · 11 publications as last author register →
  5. 5 Giuseppe Limongelli University of Campania "Luigi Vanvitelli", United Kingdom 9 publications as last author PubMed →
  6. 6 Cheryl L Stucky Medical College of Wisconsin, United States 7 publications as last author PubMed →
  7. 7 Zsuzsanna Fabry School of Medicine and Public Health, United States 7 publications as last author PubMed →
  8. 8 Albina Nowak Department of Endocrinology and Clinical Nutrition, Switzerland 6 publications as last author PubMed →
  9. 9 Massimo Lombardi IRCCS Policlinico San Donato, Italy 6 publications as last author PubMed →
  10. 10 David G Warnock University of Alabama at Birmingham, United States leads 2 studies · 5 publications as last author register →

Also leading

  1. 11 Dominique P GERMAIN Fabry Disease and Hereditary Connective Tissue Disease Reference Centre. Assistance Publique Hopitaux de Paris, France leads 1 study · 5 publications as last author register →
  2. 12 Antonino Tuttolomondo A.O.U. Policlinico "Giaccone" PALERMO, Italy leads 1 study · 5 publications as last author register →
  3. 13 Uma Ramaswami Royal Free London NHS Foundation Trust, United Kingdom 5 publications as last author PubMed →
  4. 14 Richard P Steeds University Hospital Birmingham NHS Foundation Trust, United Kingdom leads 1 study · 5 publications as last author register →
  5. 15 Aleš Linhart General University Hospital, Prague, Czech Republic leads 1 study · 5 publications as last author register →
  6. 16 Derralynn A Hughes Royal Free London NHS Foundation Trust and University College London, United Kingdom 5 publications as last author PubMed →
  7. 17 Katarina Trebušak Podkrajšek Institute of Biochemistry and Molecular Genetics, Slovenia 5 publications as last author PubMed →
  8. 18 Lorenzo A Calò University of Padova, Italy 5 publications as last author PubMed →
  9. 19 Wei Zhang Peking University First Hospital, China 5 publications as last author PubMed →
  10. 20 Georgios Tsivgoulis "Attikon" University Hospital, Greece 5 publications as last author PubMed →
  11. 21 Kimitoshi Nakamura Kumamoto University, Japan 5 publications as last author PubMed →
  12. 22 Virginia Kimonis University of California, United States 5 publications as last author PubMed →
  13. 23 Peter Nordbeck Wuerzburg University Hospital, Germany leads 2 studies · 4 publications as last author register →
  14. 24 Michael L West Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada leads 2 studies · 4 publications as last author register →
  15. 25 Elena Biagini IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy leads 2 studies · 4 publications as last author register →

Counted from ClinicalTrials.gov and PubMed, updated on 2026-08-10. Is something incorrect, or would you prefer not to be listed? Let us know — we'll adjust it.

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