Orphanet Journal of Rare Diseases

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

RESEARCH

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova and Anna Shcherbina

Orphanet Journal of Rare Diseases 2019, 14:97 | Published on: 3 May 2019

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RESEARCH

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja DiRocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

Orphanet Journal of Rare Diseases 2019, 14:98 | Published on: 3 May 2019

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RESEARCH

Comparing access to orphan medicinal products in Europe

Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz and Martina Garau

Orphanet Journal of Rare Diseases 2019, 14:95 | Published on: 3 May 2019

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RESEARCH

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein

Orphanet Journal of Rare Diseases 2019, 14:94 | Published on: 3 May 2019

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RESEARCH

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager…

Orphanet Journal of Rare Diseases 2019, 14:96 | Published on: 3 May 2019

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