sábado, 13 de mayo de 2017

New Articles From Orphanet Journal of Rare Diseases


New Articles For BioMed Central:

Orphanet Journal of Rare Diseases

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

RESEARCH

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli…
Orphanet Journal of Rare Diseases 2017, 12:90 | Published on: 12 May 2017

RESEARCH

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren and Martina C. Cornel
Orphanet Journal of Rare Diseases 2017, 12:88 | Published on: 12 May 2017

RESEARCH

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi…
Orphanet Journal of Rare Diseases 2017, 12:89 | Published on: 12 May 2017
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