Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page



Orphanet Journal of Rare Diseases

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1. Content Type:Letter To The Editor

     |  27 February 2018

   TRAPPED - an insight into two sisters’ struggle to access treatment for a rare genetic disease

   Authors:Mariam Al-Attar
2. Content Type:Review

     |  23 February 2018

   Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease

   Authors:Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores
3. Content Type:Review

     |  21 February 2018

   Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review

   Authors:Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini
4. Content Type:Research

     |  20 February 2018

   Functional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study

   Authors:Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian and Kai-Feng Xu
5. Content Type:Research

     |  17 February 2018

   Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

   Authors:Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete and Dan Miléa

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Featured series: Spinraza

One of the journals in our extended family, Gene Therapy, is featuring a special issue this month, entitled "Spinraza and advanced therapies: a stakeholder special". This issue is a vital resource for all stakeholders in the development of advanced therapies such as Spinraza, which is used to treat spinal muscular atrophy.