orphanet journal of rare diseases

Latest news about orphanet journal of rare diseases

  • A detailed clinical and molecular survey of subjects with nonsyndromic USH2A ...

    Of these, 52 were rare with an MAF <0.15% and thus were classified as likely disease-causing (21 were novel to this study and 31 were previously reported). Notably, 22 patients were found to harbour two of these likely disease-causing variants, whereas
    Source: http://www.nature.com/articles/ejhg2014283

  • New hope for rare disease drug development

    Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open access Orphanet Journal of Rare Diseases. The study
    Source: http://medicalxpress.com/news/2014-12-rare-disease-drug.html

  • Atteinte d'une maladie génétique rare, une Américaine guérit spontanément

    En 2003, l'équipe de Philip Murphy, du National Institute of Allergy and Infectious Diseases de Bethesda, aux États-Unis, découvre que les patients atteints du syndrome de WHIM possèdent une copie défectueuse d'un gène, appelé CXCR4, situé sur le
    Source: http://www.sciencesetavenir.fr/sante/20150209.OBS2020/atteinte-d-une-maladie-genetique-rare-une-americaine-guerit-spontanement.html

  • Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth ...

    PARIS, Dec. 17, 2014 /PRNewswire/ -- Pharnext SAS today announced the proof of concept of its pleotherapy research and development approach based on a proprietary network pharmacology platform that identifies synergic combinations of drugs already 
    Source: http://www.prnewswire.com/news-releases/pharnext-announces-pleotherapy-proof-of-concept-in-charcot-marie-tooth-disease-type-1a-through-two-peer-reviewed-publications-300010699.html

  • Novel Cystic Fibrosis Treatment Shown To Be Effective as Mucoactive ...

    shutterstock_126332501 A new study published in the Orphanet Journal of Rare Diseases, presented the effectiveness of Cysteamine for the treatment of Cystic Fibrosis. The study, entitled “Cysteamine (Lynovex®), a novel mucoactive antimicrobial 
    Source: http://cysticfibrosisnewstoday.com/2014/12/03/novel-cystic-fibrosis-treatment-shown-to-be-effective-as-mucoactive-antimicrobial-antibiofilm-agent/

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Orphanet Journal of Rare Diseases
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  1. Orphanet Journal of Rare Diseases - Official Site
    ... the audience of Orphanet Journal of Rare Diseases has grown fast. This year has seen the recruitment of a new team of Section Editors, ...
    http://www.ojrd.com/
  2. Orphanet Journal of Rare Diseases | All articles
    All: Review Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary ...
    http://www.ojrd.com/content
  3. Orphanet Journal of Rare Diseases - Springer
    The official journal of Orphanet, the international portal for rare diseases and orphan drugs, Orphanet Journal of Rare Diseases is an open access, online journal ...
    http://link.springer.com/journal/13023
  4. Orphanet Journal of Rare Diseases - BioMed Central | The ...
    BioMed Central Page 1 of 15 (page number not for citation purposes) Orphanet Journal of Rare Diseases Review Open Access Idiopathic pulmonary fibrosis
    http://www.biomedcentral.com/content/pdf/1750-1172-3-8.pdf
  5. The portal for rare diseases and orphan drugs - Orphanet
    The portal for rare diseases and orphan drugs. Skip to. ... ORPHANET DATA. Diseases 5,833; Expert centres 6,636; Laboratories 3,280; Professionals 19,894; Daily ...
    http://www.orpha.net/consor/cgi-bin/index.php/