Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

1. REVIEW

   Gingival fibromatosis: clinical, molecular and therapeutic issues

   Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Jan Potempa and Maria Chomyszyn-Gajewska

   Published on: 27 January 2016
2. POSITION STATEMENT

   Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

   Carla E. M. Hollak, Marieke Biegstraaten, Matthias R. Baumgartner, Nadia Belmatoug, Bruno Bembi, Annet Bosch, Martijn Brouwers, Hanka Dekker, Dries Dobbelaere, Marc Engelen, Marike C. Groenendijk, Robin Lachmann, Janneke G. Langendonk, Mirjam Langeveld, Gabor Linthorst, Eva Morava…

   Published on: 25 January 2016
3. RESEARCH

   Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

   Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, Sandrine Larue, Marie-France Rioux, Walla Al-Hertani, Amelie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer…

   Published on: 25 January 2016
4. RESEARCH

   Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions

   Nicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, Lennart Truedsson and Josefina Dykes

   Published on: 15 January 2016
5. LETTER TO THE EDITOR

   Proteus syndrome: evaluation of the immunological profile

   Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M. R. Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro and Alessandro Plebani

   Published on: 13 January 2016

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