Volume 9; Issue 1 Suppleme

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Orphanet Journal of Rare Diseases
Volume 9; Issue 1 Suppleme

Orphanet Journal of Rare Diseases

Volume 9; Issue 1 Suppleme

1

The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research

Bruckner-Tuderman, Leena, Kirstein, Daniela

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 425 KB

english, 2014

2

German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings

Weber, Stefanie, Dávila, Magdalena

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

3

How to code rare diseases with international terminologies?

Rath, Ana, Bellet, Bertrand, Olry, Annie, Gonthier, Catherine, Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 267 KB

english, 2014

4

The importance of helplines in National Plans

Mazzucato, Monica, Houyez, François, Facchin, Paola

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

5

European Network of Rare Disease Help Lines (ENRDHLs) – caller profile analysis 2013

Iskrov, Georgi, Houÿez, François

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 229 KB

english, 2014

6

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

Taruscio, D, Morciano, C, Laricchiuta, P, Mincarone, P, Palazzo, F, Leo, CG, Sabina, S, Guarino, R, Auld, J, Sejersen, T, Gavhed, D, Ritchie, K, Hilton-Boon, M, Manson, J, Kanavos, PG, Tordrup, D, Tzo

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

7

Emergency guidelines and emergency cards

Faucounneau, Véronique, Rath, Ana

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 259 KB

english, 2014

8

OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

9

Reimbursement of orphan drugs: the Pompe and Fabry case in the Netherlands

van den Brink, Rinke

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

10

The Biopontis Alliance Rare Disease Foundation (BARDF) – an innovative model for early stage rare disease therapy financing and development

Tambuyzer, Erik T, Handelin, Barbara L, Basile, Richard A, Haffner, Marlene E

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 225 KB

english, 2014

11

Use of animal models for exome prioritization of rare disease genes

Smedley, Damian, Kohler, Sebastian, Bone, William, Oellrich, Anika, Jacobsen, Jules, Wang, Kai, Mungall, Chris, Washington, Nicole, Bauer, Sebastian, Seelow, Dominic, Krawitz, Peter, Boerkel, Corneliu

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

12

Perspective having a Centre of Expertise that covers more than one rare disease

Ostergaard, John R

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 260 KB

english, 2014

13

The experience of a charity in translating the results of basic research to therapies for patients

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 270 KB

english, 2014

14

Health care cost-containment measures in the context of the economic crisis: impact analysis

Houÿez, François, Tessier, Ludovic, Synodinos, Dimitrios

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

15

Understanding off-label use and the new challenges

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

16

Findacure – the Fundamental Diseases Partnership

Hall, Anthony K, Sireau, Nicolas T

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 259 KB

english, 2014

17

Early access to medicinal products: potential and limits

Evers, Pauline J

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 262 KB

english, 2014

18

Are we ready? What is missing and what is needed? A regulator’s perspective

Bernardini, Claudia, Muscolo, Luisa AA, Siviero, Paolo D, Montilla, Simona, Pani, Luca

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 224 KB

english, 2014

19

A company experience of the first MoCA pilot project

Hughes-Wilson, Wills

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 496 KB

english, 2014

20

Managed entry agreements

Muscolo, Luisa AA, Bernardini, Claudia, Siviero, Paolo D, Montilla, Simona, Pani, Luca

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

21

Differential pricing: solidarity at times of financial crisis

Macchia, Flaminia

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

22

Identifying specific social challenges of rare diseases: current challenges and issues

Dan, Dorica, Castro, Raquel

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 274 KB

english, 2014

23

Quality monitoring in the English National Health Service

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

24

Specific social challenges for rare diseases: the French experience, 2005-2014

Nourissier, Christel

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 231 KB

english, 2014

25

Rare diseases and disabilities: improving the information available with three Orphanet projects

de Chalendar, Myriam, Daniel, Marie, Olry, Annie, Rath, Ana

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 272 KB

english, 2014

26

Patient innovation under rare diseases and chronic needs

Oliveira, Pedro, Zejnilovic, Leid, Canhão, Helena, von Hippel, Eric

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014

27

Can people living with a rare disease be independent? Inspiring personal stories

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 260 KB

english, 2014

28

Empowerment Weekends for young adults

Lemli, Annette, Schwarzer, Nicole

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 263 KB

english, 2014

29

Evaluation of Centres: the French experience since 2009

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

30

FindZebra - the search engine for difficult medical cases

Winther, Ole, Svenstrup, Dan, Henningsen, Philip P, Kristiásson, Róbert, Jørgensen, Henrik L

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 263 KB

english, 2014

31

Towards a European platform for Rare Diseases Registries

Nicholl, Ciarán

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

32

The French national registry for rare diseases: an integrated model from care to epidemiology and research

Choquet, Rémy, Landais, Paul

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 277 KB

english, 2014

33

National Rare Disease Registries: overview from Spain

de la Paz, M, Alonso, V, Zurriaga, O, Astray, J, Aldana-Espinal, JM, Margolles, MJ, Jiménez, J, Palomar, JA, Santana, M, Ramalle-Gomarra, E, Ramos, JM, Arribas, FE, Álamo, R, Gutiérrez-Ávila, G, Galmé

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

34

OSSE – open source registry software solution

Muscholl, Marita, Lablans, Martin, Wagner, Thomas OF, Ückert, Frank

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 235 KB

english, 2014

35

Se-atlas-cartographic representation of experts for rare diseases

Storf, Holger, Hartz, Tobias, Pfeiffer, Wulf, Rommel, Kathrin, Derks, Mareike, Nyoungui, Elisabeth, Schmidtke, Joerg, Graessner, Holm, Knoell, Mirjam, Wagner, Thomas, Ueckert, Frank

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 234 KB

english, 2014

36

Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia

Schneider, Holm, Schneider, Pascal, Krieg, Peter, Dang, AnhThu, Huttner, Kenneth, Hermes, Katharina

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

37

Integration of Rare Diseases into Social Services

Castro, Raquel, Dan, Dorica

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 581 KB

english, 2014

38

Evolution of national and European policies in the field of rare diseases and their impact over the past five years

Rodwell, Charlotte, Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 607 KB

english, 2014

39

Preserving the owner’s autonomy in networks of patient registries and biobanks

Lablans, Martin, Kadioglu, Dennis, Muscholl, Marita, Ückert, Frank

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

40

Characterization and classification of Rare Disease Registries by using exploratory data analyses

Coi, Alessio, Santoro, Michele, Lipucci, Michele, Bianucci, Anna, Gainotti, Sabina, Mollo, Emanuela, Vittozzi, Luciano, Taruscio, Domenica, Bianchi, Fabrizio

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

41

National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)

Alonso, Verónica, Abaitua, Ignacio, Zurriaga, Óscar, Astray, Jenaro, Errezola, Manuel, Aldana-Espinal, Josefa M, Margolles, Mario J, Jiménez, Josep, Palomar, Joaquín A, Santana, Milagrosa, Ramalle-Gom

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 442 KB

english, 2014

42

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Wood, Libby, Evangelista, Teresinha, Norwood, Fiona, Orrell, Richard, Pohlschmidt, Marita, Busby, Mark, Graham, Andrew, Hilton-Jones, David, Longman, Cheryl, Lunt, Peter, Roberts, Mark, Watt, Stuart,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 232 KB

english, 2014

43

The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases

Menzel, Olivier

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 224 KB

english, 2014

44

New e-health services for the European Network for Rare and Congenital Anaemias (e-ENERCA)

Vives Corrons, J L, Mañú Pereira, M, Olaya, L

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 231 KB

english, 2014

45

E-learning course for Norwegian caregivers

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 259 KB

english, 2014

46

Social profiles project - only the strong survive

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

47

Setting up strategies: patient inclusion in biobank and genomics research in Europe

McCormack, Pauline, Kole, Anna

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 272 KB

english, 2014

48

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

Jill Wood,Stuart Siedman,Jennifer Siedman,Paul Levy…

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014