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Pompe disease

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Specialized doctors worldwide

Who leads research on Pompe disease? Everyone listed here comes from a public registry: either as a principal investigator of a study on ClinicalTrials.gov, or as last author of publications in PubMed. These are two different things, so we list them in two columns side by side rather than combining 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 Yin-Hsiu Chien National Taiwan University Hospital leads 5 studies · 7 publications as last author register →
  2. 2 Dwight D Koeberl Duke University, United States leads 5 studies · 5 publications as last author register →
  3. 3 Priya S Kishnani Duke University, United States leads 4 studies · 26 publications as last author register →
  4. 4 Barry J. Byrne University of Florida, United States leads 4 studies · 4 publications as last author register →
  5. 5 Harrison Jones Duke University, United States leads 4 studies register →
  6. 6 Tahseen Mozaffar University of California Irvine Health, United States leads 3 studies · 9 publications as last author register →
  7. 7 Ozlem Goker-Alpan Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), United States leads 3 studies register →
  8. 8 Nadine A.M.E. van der Beek Erasmus Medical Center, Netherlands leads 2 studies · 9 publications as last author register →
  9. 9 Guang Yang Chinese PLA General Hospital, China leads 2 studies · 3 publications as last author register →
  10. 10 Laurent Servais Centre Hospitalier Universitaire de Liege, Belgium leads 2 studies register →

Also leading

  1. 11 Lea Bentur Rambam Health Care Campus, Israel leads 2 studies register →
  2. 12 Manuela Corti, P.T., University of Florida, United States leads 2 studies register →
  3. 13 Renuka Limgala LDRTC, United States leads 2 studies register →
  4. 14 Stephan Wenninger, PD med. Neurologist, Germany leads 2 studies register →
  5. 15 Tippi C MacKenzie University of California, San Francisco, United States leads 2 studies register →
  6. 16 Whu-Liang Hwu National Taiwan University Hospital leads 2 studies register →
  7. 17 Benedikt Schoser Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany leads 1 study · 15 publications as last author register →
  8. 18 Claude Desnuelle Centre Hospitalier Universitaire de Nice, France leads 1 study register →
  9. 19 François FEILLET Children's Hospital - CHRU de Nancy, France leads 1 study register →
  10. 20 Giuseppe Cosentino Translational Neurophysiology, Italy leads 1 study register →
  11. 21 Henning Andersen Aarhus University Hospital, Denmark leads 1 study register →
  12. 22 Jones Harrison Duke University, United States leads 1 study register →
  13. 23 Jordi Díaz Manera Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Spain leads 1 study register →
  14. 24 Karen L Madsen Neuromuscular Research Unit, Denmark leads 1 study register →
  15. 25 Lisa D Hobson-Webb Duke University, United States 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 Priya S Kishnani Duke University, United States leads 4 studies · 26 publications as last author register →
  2. 2 Benedikt Schoser Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany leads 1 study · 15 publications as last author register →
  3. 3 Tahseen Mozaffar University of California Irvine Health, United States leads 3 studies · 9 publications as last author register →
  4. 4 Nadine A.M.E. van der Beek Erasmus Medical Center, Netherlands leads 2 studies · 9 publications as last author register →
  5. 5 Ans T van der Ploeg University Medical Center, Netherlands 9 publications as last author PubMed →
  6. 6 Jordi Díaz-Manera Newcastle University Translational and Clinical Research Institute, United Kingdom 9 publications as last author PubMed →
  7. 7 Pascal Laforêt Raymond Poincaré University Hospital, France 9 publications as last author PubMed →
  8. 8 Yin-Hsiu Chien National Taiwan University Hospital leads 5 studies · 7 publications as last author register →
  9. 9 Dwight D Koeberl Duke University, United States leads 5 studies · 5 publications as last author register →
  10. 10 Mai K ElMallah School of Medicine, United States 5 publications as last author PubMed →

Also leading

  1. 11 Barry J. Byrne University of Florida, United States leads 4 studies · 4 publications as last author register →
  2. 12 Terry G J Derks Beatrix Children's Hospital, Netherlands 4 publications as last author PubMed →
  3. 13 Rui Zhou National Regional Children's Medical Center (Northwest), China 4 publications as last author PubMed →
  4. 14 Osamu Yamato Laboratory of Clinical Pathology, Japan 4 publications as last author PubMed →
  5. 15 Guang Yang Chinese PLA General Hospital, China leads 2 studies · 3 publications as last author register →
  6. 16 Antonio Toscano Department of Clinical and Experimental Medicine, Italy 3 publications as last author PubMed →
  7. 17 Robert Hodgson University of York, United Kingdom 3 publications as last author PubMed →
  8. 18 Saskia B Wortmann University Children's Hospital Salzburg, Netherlands 3 publications as last author PubMed →
  9. 19 Chu-Yi Yu Institute of Chemistry, China 3 publications as last author PubMed →
  10. 20 Fatima Ailal Laboratory of Clinical Immunology 3 publications as last author PubMed →
  11. 21 Marta Artola Leiden Institute of Chemistry, Netherlands 3 publications as last author PubMed →
  12. 22 Taras Y Nazarko Georgia State University, United States 3 publications as last author PubMed →

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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