Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study Petra Kiefer, Janbernd Kirschner, Astrid Pechmann and Thorsten Langer Orphanet Journal of Rare Diseases 2020, 15:194 | Published on: 29 July 2020 Full Text | PDF RESEARCH The infantile neuroaxonal dystrophy rating scale (INAD-RS) Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx and Peter Milner Orphanet Journal of Rare Diseases 2020, 15:195 | Published on: 29 July 2020 Full Text | PDF RESEARCH Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo and Edward C. Hsiao Orphanet Journal of Rare Diseases 2020, 15:193 | Published on: 29 July 2020 Full Text | PDF

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