Orphanet Journal of Rare Diseases 1/2014

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Inhaltsverzeichnis ( 48 Artikel )

01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Quality monitoring in the English National Health Service

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

FindZebra - the search engine for difficult medical cases

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Towards a European platform for Rare Diseases Registries

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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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

OSSE – open source registry software solution

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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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Understanding off-label use and the new challenges

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

A company experience of the first MoCA pilot project

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Patient innovation under rare diseases and chronic needs

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

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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

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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

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

Integration of Rare Diseases into Social Services

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Evaluation of Centres: the French experience since 2009

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

National Rare Disease Registries: overview from Spain

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

How to code rare diseases with international terminologies?

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

The importance of helplines in National Plans

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Emergency guidelines and emergency cards

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Use of animal models for exome prioritization of rare disease genes

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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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Findacure – the Fundamental Diseases Partnership

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Early access to medicinal products: potential and limits

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Managed entry agreements

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Differential pricing: solidarity at times of financial crisis

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

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

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Social profiles project - only the strong survive

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01.12.2014 | Oral presentation | Sonderheft 1/2014 Open Access

Empowerment Weekends for young adults

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

Se-atlas-cartographic representation of experts for rare diseases

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

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

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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)

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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

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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)

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01.12.2014 | Poster presentation | Sonderheft 1/2014 Open Access

E-learning course for Norwegian caregivers

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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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Springer Medizin

Inhaltsverzeichnis ( 48 Artikel )

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

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

Quality monitoring in the English National Health Service

FindZebra - the search engine for difficult medical cases

Towards a European platform for Rare Diseases Registries

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

OSSE – open source registry software solution

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

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

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

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

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

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

Understanding off-label use and the new challenges

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

A company experience of the first MoCA pilot project

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

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

Patient innovation under rare diseases and chronic needs

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

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

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

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

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

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

Integration of Rare Diseases into Social Services

Evaluation of Centres: the French experience since 2009

National Rare Disease Registries: overview from Spain

How to code rare diseases with international terminologies?

The importance of helplines in National Plans

Emergency guidelines and emergency cards

OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases

Use of animal models for exome prioritization of rare disease genes

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

Findacure – the Fundamental Diseases Partnership

Early access to medicinal products: potential and limits

Managed entry agreements

Differential pricing: solidarity at times of financial crisis

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

Social profiles project - only the strong survive

Empowerment Weekends for young adults

Se-atlas-cartographic representation of experts for rare diseases

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

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

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

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

E-learning course for Norwegian caregivers

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

Aktuelle Ausgaben

Ausgabe 1/2021

Ausgabe 1/2020

Sonderheft 2/2020

Sonderheft 1/2020

Ausgabe 1/2019

Ausgabe 1/2018

Sonderheft 2/2018

Sonderheft 1/2018

Ausgabe 1/2017

Sonderheft 1/2017