The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Author:

De Antonio Marie, ,Dogan Céline,Daidj Ferroudja,Eymard Bruno,Puymirat Jack,Mathieu Jean,Gagnon Cynthia,Katsahian Sandrine,Hamroun Dalil,Bassez Guillaume

Funder

AFM-Téléthon

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference68 articles.

1. Aymé S, Rodwell C. The European Union Committee of Experts on Rare Diseases:three productive years at the service of the rare disease community. Orphanet J Rare Dis. 2014;9(1):30. https://doi.org/10.1186/1750-1172-9-30 .

2. Council recommendation on an action in the field of rare diseases. 2009. https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF

3. European Union Committee of experts on Rare Diseases Recommendations on quality criteria for centers of expertise for rare diseases in Member states. 2011 http://eucerd.eu/?post_type=document&p=1224

4. European Union Committee of Experts on Rare diseases: European Union Committee of Experts on rare diseases: recommendations on European reference Networks for rare diseases. 2013 http://www.eucerd.eu/?post_type=document&p=2207

5. Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V. Austin CP; international rare diseases research consortium (IRDiRC). Progress in rare diseases research 2010-2016: an IRDiRC perspective. Clin Transl Sci. 2018;11(1):11–20. https://doi.org/10.1111/cts.12501 Epub 2017 Oct 23. Review.

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