Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

Articles

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1. Content Type:Review

     |  7 June 2019

   Rendu-Osler-Weber disease: a gastroenterologist’s perspective

   Authors:Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini
2. Content Type:Review

     |  7 June 2019

   Occupational therapy for epidermolysis bullosa: clinical practice guidelines

   Authors:Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek and Phuong Khuu
3. Content Type:Research

     |  7 June 2019

   Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1

   Authors:M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis and Sebastiaan J. M. Gaemers
4. Content Type:Research

     |  7 June 2019

   Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada

   Authors:Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon
5. Content Type:Research

     |  7 June 2019

   “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease

   Authors:Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller and Raffaella Willmann