Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Author:

Mehta Atul1ORCID,Kuter David J.2,Salek Sam S.3,Belmatoug Nadia4,Bembi Bruno5,Bright Jeremy6,vom Dahl Stephan7,Deodato Federica8,Di Rocco Maja9,Göker‐Alpan Ozlem10,Hughes Derralynn A.1,Lukina Elena A.11,Machaczka Maciej1213ORCID,Mengel Eugen14,Nagral Aabha1516,Nakamura Kimitoshi17,Narita Aya18,Oliveri Beatriz19,Pastores Gregory20,Pérez‐López Jordi21,Ramaswami Uma1,Schwartz Ida V.22,Szer Jeff23ORCID,Weinreb Neal J.24,Zimran Ari2526

Affiliation:

1. Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School London UK

2. Center for Hematology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA

3. School of Life and Medical Sciences, University of Hertfordshire Hatfield UK

4. Referral Center for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, site Beaujon, Clichy Paris France

5. Centre for Rare Diseases Academic Medical Centre Hospital of Udine Udine Italy

6. Research Evaluation Unit Oxford PharmaGenesis Ltd Oxford UK

7. Department of Gastroenterology, Hepatology and Infectious Diseases Heinrich‐Heine University Düsseldorf Germany

8. Division of Metabolism, Department of Pediatric Specialist Bambino Gesù Children's Hospital, IRCCS Rome Italy

9. Unit of Rare Diseases, Department of Pediatrics IRCCS Giannina Gaslini Institute Genoa Italy

10. Lysosomal Disorders Unit and CFCT O and O Alpan LLC Fairfax Virginia USA

11. Department of Orphan Diseases National Research Center for Hematology Moscow Russia

12. Medical Faculty University of Rzeszow Rzeszow Poland

13. Department of Medicine at Huddinge Hematology Center Karolinska, Karolinska Institute, Karolinska University Hospital Huddinge Stockholm Sweden

14. Villa Metabolica Center of Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz Mainz Germany

15. Department of Gastroenterology Jaslok Hospital and Research Centre Mumbai India

16. Department of Gastroenterology Apollo Hospital Mumbai India

17. Department of Pediatrics Graduate School of Medical Sciences, Kumamoto University Kumamoto Japan

18. Department of Child Neurology Faculty of Medicine, Tottori University Yon ago Japan

19. Osteoporosis and Metabolic Bone Diseases Laboratory, Institute of Immunology, Genetics, and Metabolism (INIGEM) CONICET ‐ UBA Buenos Aires Argentina

20. University College Dublin, The Mater Misericordiae University Hospital Dublin Ireland

21. Unit of Rare Diseases, Hospital Vall d'Hebron Barcelona Spain

22. Medical Genetics Service – HCPA, Genetics Department UFRGS Porto Alegre Brazil

23. Department of Clinical Haematology, Bone Marrow Transplant Service The Royal Melbourne Hospital Melbourne Victoria Australia

24. Department of Human Genetics and Medicine (Hematology) University of Miami Miller School of Medicine, UHealth Sylvester Coral Springs Coral Springs Florida USA

25. Shaare Zedek Medical Center and Hadassah Medical School Jerusalem Israel

26. Hadassah Medical School Jerusalem Israel

Funder

Shire International GmbH

Publisher

Wiley

Subject

Internal Medicine

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