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Orphanet Journal of Rare Diseases|May 26, 2018
Trans-Atlantic collaboration: applying lessons learned from the US CF Foundation quality improvement initiativeKathryn A Sabadosa, Marjorie M Godfrey, Bruce C Marshall
Orphanet Journal of Rare Diseases|June 17, 2017
Open issues in Mucopolysaccharidosis type I-HurlerRossella Parini, Federica Deodato, Maja Di Rocco, et al.
Orphanet Journal of Rare Diseases|June 14, 2017
International physician survey on management of FOP: a modified Delphi studyMaja Di Rocco, Genevieve Baujat, Marta Bertamino, et al.
Orphanet Journal of Rare Diseases|May 17, 2017
Quantification of gait in mitochondrial m.3243A > G patients: a validation studyRob Ramakers, Saskia Koene, Jan T Groothuis, et al.
Orphanet Journal of Rare Diseases|July 20, 2018
Anatomy of the ventricular septal defect in congenital heart defects: a random association?Meriem Mostefa-Kara, Lucile Houyel, Damien Bonnet
Orphanet Journal of Rare Diseases|July 22, 2018
Acid ceramidase deficiency: Farber disease and SMA-PMEFabian P S Yu, Samuel Amintas, Thierry Levade, et al.
Orphanet Journal of Rare Diseases|July 6, 2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension studyNicola Longo, Roberto Zori, Melissa P Wasserstein, et al.
Orphanet Journal of Rare Diseases|July 5, 2018
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathiesJessica W Witherspoon, Ruhi P Vasavada, Melissa R Waite, et al.
Orphanet Journal of Rare Diseases|July 7, 2018
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trialRoberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, et al.
Orphanet Journal of Rare Diseases|August 22, 2018
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study)Belén Ruiz-Antoran, Aranzazu Sancho-López, Rosario Cazorla-Calleja, et al.
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