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Orphanet Journal of Rare Diseases|May 19, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patientsC I van Capelle, J C van der Meijden, J M P van den Hout, et al.
Orphanet Journal of Rare Diseases|May 20, 2016
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rateMichiko Mori, Michael Dictor, Nicholas Brodszki, et al.
Orphanet Journal of Rare Diseases|May 22, 2016
Pharmaceutical expenditure on drugs for rare diseases in Canada: a historical (2007-13) and prospective (2014-18) MIDAS sales data analysisVictoria Divino, Mitch DeKoven, Michael Kleinrock, et al.
Orphanet Journal of Rare Diseases|May 27, 2016
Quantifying benefit-risk preferences for new medicines in rare disease patients and caregiversT Morel, S Aymé, D Cassiman, et al.
Orphanet Journal of Rare Diseases|May 1, 2016
Rethinking fatigue in Gaucher diseaseY Chen Zion, E Pappadopulos, M Wajnrajch, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMatthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathiesAnna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1Imen Dorboz, Marie Coutelier, Anne T Bertrand, et al.
Orphanet Journal of Rare Diseases|November 19, 2014
Targeted next generation sequencing for molecular diagnosis of Usher syndromeMaría J Aparisi, Elena Aller, Carla Fuster-García, et al.
Orphanet Journal of Rare Diseases|November 19, 2014
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesRegina M Leadley, Shona Lang, Kate Misso, et al.
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