Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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The following new articles have just been published in Orphanet Journal of Rare Diseases

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1. RESEARCH

   Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print

   Claude Hamonet, Daniel Frédy, Jérémie H. Lefèvre, Sacha Bourgeois-Gironde and Jean-David Zeitoun

   Published on: 22 April 2016
2. RESEARCH

   Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

   E. M. de Gussem, C. P. Edwards, A. E. Hosman, C. J. J. Westermann, R. J. Snijder, M. E. Faughnan and J. J. Mager

   Published on: 22 April 2016
3. REVIEW

   Cystinosis: a review

   Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel and Elena Levtchenko

   Published on: 22 April 2016
4. RESEARCH

   Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study

   Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin

   Published on: 21 April 2016
5. RESEARCH

   A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

   René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau and Beat Steinmann

   Published on: 21 April 2016

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