Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs.
Editor-in-Chief
- Ségolène Aymé, Hopital Broussais, INSERM
Society Affiliations
The official journal of Orphanet, the European portal for rare diseases and orphan drugs.Articles
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Research
Orphanet Journal of Rare Diseases 2012, 7:28 (16 May 2012)Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of alpha-lipoic acid and N-acetylcysteine
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Research
Orphanet Journal of Rare Diseases 2012, 7:27 (15 May 2012)A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
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Review
Orphanet Journal of Rare Diseases 2012, 7:26 (15 May 2012)Hypoglycaemia related to inherited metabolic diseases in adults
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Research
Orphanet Journal of Rare Diseases 2012, 7:25 (14 May 2012)Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
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Review
Orphanet Journal of Rare Diseases 2012, 7:24 (2 May 2012)Past, present and future of hemophilia: a narrative review
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Review
Orphanet Journal of Rare Diseases 2012, 7:23 (30 April 2012)Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management
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Research
Orphanet Journal of Rare Diseases 2012, 7:22 (23 April 2012)Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
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Research
Orphanet Journal of Rare Diseases 2012, 7:21 (19 April 2012)Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
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Review
Orphanet Journal of Rare Diseases 2012, 7:19 (5 April 2012)Cystinuria: an inborn cause of urolithiasis
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About Orphanet
Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:
- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
- An encyclopedia of rare diseases in six languages.
- An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization.
- A directory of specialised services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network.
- An assistance-to-diagnosis tool allowing users to search by signs and symptoms.
- An encyclopedia of recommendations and guidelines for emergency medical care.
- A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
- A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
- Free access to Orphanet data for research purpose is available at www.orphadata.org.
About the European Union Committee of Experts on Rare Diseases
The European Union Committee of Experts on Rare Diseases (EUCERD) was formally established via the European Commission Decision of 30 November 2009 (2009/872/EC). The EUCERD fosters exchanges of relevant experience, policies and practices between stake holders. Specifically, the EUCERD is charged with the following responsibilities:
- assisting the Commission in the monitoring, evaluating and disseminating the results of measures taken at Community and national level in the field of rare diseases;
- contributing to the implementation of Community actions in the field, in particular by analyzing the results and suggesting improvements to the measures taken;
- contributing to the preparation of Commission reports on the implementation of the Commission Communication and the Council Recommendation;
- delivering opinions, recommendations or reports to the Commission either at the latter's request or on its own initiative;
- assisting the Commission in international cooperation on matters relating to rare diseases;
- assisting the Commission in drawing up guidelines, recommendations and any other action defined in the Commission Communication and in the Council Recommendation;
- providing an annual report of its activities to the Commission.
All documents about the activities of this committee are accessible at www.eucerd.eu.
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- Science Citation Index Expanded
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