Articles
Volume 7 Supplement 2
6th European Conference on Rare Diseases and Orphan Products
Meeting abstracts
6th European Conference on Rare Diseases and Orphan Products
Brussels, Belgium
23-25 May 2012
Edited by Kasia Peala and Alice Elliott
This publication (or activity) has been funded with support from the European Union's Health Programme. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein.
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State of the art of rare disease activities in Europe: a EUCERD perspective Ségolène Aymé Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A1 (22 November 2012) |
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State of the art of rare disease activities around the world: overview of the non-European landscape Durhane Wong-Rieger Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A2 (22 November 2012) |
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National plans: case study Belgium Ri De Ridder Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A3 (22 November 2012) |
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The second French plan for rare diseases 2011-2014 Alain Garcia, Christel Nourissier Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A4 (22 November 2012) |
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Scope of centres of expertise for rare diseases in European countries where they exist Charlotte Rodwell, Ségolène Aymé, Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A5 (22 November 2012) |
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European Reference Networks: developing a EUCERD opinion Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A6 (22 November 2012) |
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Can the cross-borders directive improve the quality of genetic testing in the future? Jean-Jacques Cassiman Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A7 (22 November 2012) |
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Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD) Sunil Rodger, Birgit F Steffensen, Hanns Lochmüller Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A8 (22 November 2012) |
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Véronique Héon-Klin, Alexandra Halbach, Miriam Schlangen, Birgit Schnieders Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A9 (22 November 2012) |
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Peter N Robinson Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A10 (22 November 2012) |
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Speeding up research with the Semantic Web Marco Roos, Erik A Schultes, Barend Mons Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A11 (22 November 2012) |
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Professional clinical guidelines for rare diseases: methodology Odile Kremp, Patrice Dosquet, Ana Rath Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A12 (22 November 2012) |
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The involvement of patients in developing clinical guidelines Kay Parkinson Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A13 (22 November 2012) |
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How reference networks develop, implement, and monitor guidelines Jan Kirschner, Sunil Rodger, Julia Vry, Kathrin Gramsch, Hanns Lochmüller, Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A14 (22 November 2012) |
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Training medical students on rare disorders Paula C Byrne Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A15 (22 November 2012) |
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The Italian project to increase health professionals’ training and awareness on rare diseases Simona Bellagambi Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A16 (22 November 2012) |
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HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity Ilona Autti-Rämö Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A17 (22 November 2012) |
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Spina Bifida and primary prevention Pierre Mertens Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A18 (22 November 2012) |
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Finding new medicines to fight CF: multiple steps of a success story Margarida D Amaral Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A19 (22 November 2012) |
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Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen, Judith CT van Deutekom Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A20 (22 November 2012) |

