Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases







Research  

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M

Orphanet Journal of Rare Diseases 2014, 9 :209 (14 December 2014)

Abstract | Provisional PDF

About the European Union Committee of Experts on Rare Diseases

The European Union Committee of Experts on Rare Diseases (EUCERD), established via the European Commission Decision of 30 November 2009 (2009/872/EC), brings together stakeholders in the field of rare diseases and representatives of the EU Member States (MS) to:

•  Assist the European Commission with the preparation and implementation of Community activities in the field of rare diseases, including drawing up guidelines and recommendations;
•  Foster exchanges of experience, policies and practices between specialised bodies at MS level, European authorities in the field of research and public health, and stakeholder groups.

Since its first meeting in December 2010, the EUCERD has published a number of reports and recommendations, all of which are available on the EUCERD website:www.eucerd.eu.

In particular, the EUCERD issues an annual report on the State of the Art of Rare Disease Activities in Europe. This five-volume report provides detailed information on the activities in the field at both European and Member State level, covering a wide range of aspects such as centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services.

All five volumes of this report are available freely for download on the EUCERD website.

• Research

   

  

  Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

  Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E et al.Orphanet Journal of Rare Diseases 2014, 9:209 (14 December 2014)
• Letter to the Editor

   

  

  Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen

  Pozzi M, Piccinini L, Gallo M, Motta F, Radice S and Clementi EOrphanet Journal of Rare Diseases 2014, 9:208 (12 December 2014)
• Research

   

  

  29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

  Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C et al.Orphanet Journal of Rare Diseases 2014, 9:207 (11 December 2014)
• Research

   

  

  Results from the French National Esophageal Atresia register: one-year outcome

  Schneider A, Blanc S, Bonnard A, Khen-Dunlop N, Auber F, Breton A, Podevin G, Sfeir R et al.Orphanet Journal of Rare Diseases 2014, 9:206 (11 December 2014)
• Letter to the Editor

   

  

  Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally

  Porat S, de Rham M, Giamboni D, Van Mieghem T and Baud DOrphanet Journal of Rare Diseases 2014, 9:204 (10 December 2014)
• Research

   

  

  The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

  Sheikhzadeh S, De Backer J, Gorgan NR, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D et al.Orphanet Journal of Rare Diseases 2014, 9:203 (10 December 2014)
• Research

   

  

  Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy

  Chumakov I, Milet A, Cholet N, Primas G, Boucard A, Pereira Y, Graudens E, Mandel J et al.Orphanet Journal of Rare Diseases 2014, 9:201 (10 December 2014)
• Review

   

  

  Hajdu-Cheney syndrome: a review

  Canalis E and Zanotti SOrphanet Journal of Rare Diseases 2014, 9:200 (10 December 2014)
• Research

   

  

  Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

  Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, del Val J et al.Orphanet Journal of Rare Diseases 2014, 9:190 (10 December 2014)
• Research

   

  

  Bullous pemphigoid in infants: characteristics, diagnosis and treatment

  Schwieger-Briel A, Moellmann C, Mattulat B, Schauer F, Kiritsi D, Schmidt E, Sitaru C, Ott H et al.Orphanet Journal of Rare Diseases 2014, 9:185 (10 December 2014)
• View more articles

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 toolallowing 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, theOrphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
•  Free access to Orphanet data for research purpose is available atwww.orphadata.org.