Orphanet Journal of Rare Diseases

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

REVIEW

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

Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini

Orphanet Journal of Rare Diseases 2019, 14:130 | Published on: 7 June 2019

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REVIEW

Occupational therapy for epidermolysis bullosa: clinical practice guidelines

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

Orphanet Journal of Rare Diseases 2019, 14:129 | Published on: 7 June 2019

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RESEARCH

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

M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis and Sebastiaan J. M. Gaemers

Orphanet Journal of Rare Diseases 2019, 14:128 | Published on: 7 June 2019

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RESEARCH

“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

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

Orphanet Journal of Rare Diseases 2019, 14:126 | Published on: 7 June 2019

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RESEARCH

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

Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon

Orphanet Journal of Rare Diseases 2019, 14:127 | Published on: 7 June 2019

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