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Zeitschrift

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases 1/2014

Sonderheft 1/2014

7th European Conference on Rare Diseases and Orphan Products (ERCD 2014)

Inhaltsverzeichnis ( 48 Artikel )

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Quality monitoring in the English National Health Service

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

FindZebra - the search engine for difficult medical cases

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Towards a European platform for Rare Diseases Registries

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

OSSE – open source registry software solution

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Understanding off-label use and the new challenges

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

A company experience of the first MoCA pilot project

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Patient innovation under rare diseases and chronic needs

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

Integration of Rare Diseases into Social Services

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Evaluation of Centres: the French experience since 2009

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

National Rare Disease Registries: overview from Spain

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

How to code rare diseases with international terminologies?

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

The importance of helplines in National Plans

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Emergency guidelines and emergency cards

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Use of animal models for exome prioritization of rare disease genes

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Findacure – the Fundamental Diseases Partnership

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Early access to medicinal products: potential and limits

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Managed entry agreements

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Differential pricing: solidarity at times of financial crisis

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Social profiles project - only the strong survive

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Empowerment Weekends for young adults

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

Se-atlas-cartographic representation of experts for rare diseases

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

E-learning course for Norwegian caregivers

01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

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