Volume 5 Supplement 1

5th European Conference on Rare Diseases (ECRD 2010)

Meeting abstracts

Edited by Joseph Torrent i Farnell, Torben Grønnebaek and François Houÿez

5th European Conference on Rare Diseases (ECRD 2010). Go to conference site.

Krakow, Poland13-15 May 2010

Concatenated PDF 5S1

Page 2 of 2

EU Clinical trial regulation in the environment of rare diseases: time for a change

Authors: Martine Zimmermann

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P19

Content type: Poster presentation

Published on: 19 October 2010
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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20

Content type: Poster presentation

Published on: 19 October 2010
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Wilson France: a national database for Wilson’s disease

Authors: Jean-Marc Trocello

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P21

Content type: Poster presentation

Published on: 19 October 2010
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International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Authors: Cornelia Zeidler, Gusal Pracht, Manuela Germeshausen and Karl Welte

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P22

Content type: Poster presentation

Published on: 19 October 2010
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Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease

Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23

Content type: Poster presentation

Published on: 19 October 2010
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The patients’ organisations of children with primary immunodeficiency in Poland

Authors: Ewa Bernatowska, Malgorzata Pac and Dorota Marynowicz

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P24

Content type: Poster presentation

Published on: 19 October 2010
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New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Authors: Virginie Hivert, Natalia Martin, Marc Hanauer and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P25

Content type: Poster presentation

Published on: 19 October 2010
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Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Authors: Luciano Vittozzi, Georg F Hoffmann, Martina Cornel and Gerard Loeber

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P26

Content type: Poster presentation

Published on: 19 October 2010
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APTIC: a social network to improve the quality of life of members of patients' associations

Authors: Manuel Armayones, Eulàlia Hernández-Encuentra, Beni Gómez-Zúñiga, Noemí Guillamon, Gerardo Ontiveros, Ana Bosque and Begonya Nafría

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P27

Content type: Poster presentation

Published on: 19 October 2010
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Issues of management of Epidermolysis bullosa in Georgia

Authors: Oleg Kvlividze, Tamar Chigladze, George Tvaliashvili and George Galdava

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P28

Content type: Poster presentation

Published on: 19 October 2010
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5th European Conference on Rare Diseases (ECRD 2010)

Meeting abstracts

EU Clinical trial regulation in the environment of rare diseases: time for a change

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Wilson France: a national database for Wilson’s disease

International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease

The patients’ organisations of children with primary immunodeficiency in Poland

New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Evaluation of population newborn screening practices for rare disorders in member states of the European Union

APTIC: a social network to improve the quality of life of members of patients' associations

Issues of management of Epidermolysis bullosa in Georgia

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