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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1. RESEARCH

   Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

   Sigrid Baldanzi, Francesca Bevilacqua, Rita Lorio, Leda Volpi, Costanza Simoncini, Antonio Petrucci, Mirco Cosottini, Gabriele Massimetti, Gloria Tognoni, Giulia Ricci, Corrado Angelini and Gabriele Siciliano

   Published on: 4 April 2016
2. REVIEW

   Arrhythmogenic cardiomyopathy

   Kalliopi Pilichou, Gaetano Thiene, Barbara Bauce, Ilaria Rigato, Elisabetta Lazzarini, Federico Migliore, Martina Perazzolo Marra, Stefania Rizzo, Alessandro Zorzi, Luciano Daliento, Domenico Corrado and Cristina Basso

   Published on: 2 April 2016
3. RESEARCH

   Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

   Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, Aline Cano, Maria L. Couce, Mireia Del Toro, Maria Alice Donati, Angeles Garcia-Cazorla, David Gil-Ortega, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Coker, Rosa Lama-More, Mercedes Martinez-Pardo Casanova…

   Published on: 31 March 2016
4. LETTER TO THE EDITOR

   Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial

   Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer and Jean-Philippe Lacour

   Published on: 25 March 2016
5. RESEARCH

   Survey of healthcare experiences of Australian adults living with rare diseases

   Caron Molster, Debra Urwin, Louisa Di Pietro, Megan Fookes, Dianne Petrie, Sharon van der Laan and Hugh Dawkins

   Published on: 24 March 2016

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