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Orphanet Journal of Rare Diseases|October 25, 2017
Mortality in patients with Sanfilippo syndromeChristine Lavery, Chris J Hendriksz, Simon A Jones
Orphanet Journal of Rare Diseases|December 15, 2015
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiencyNóra Veszeli, Dorottya Csuka, Zsuzsanna Zotter, et al.
Orphanet Journal of Rare Diseases|November 11, 2015
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in AsiaHsiang-Ru Liaw, Hsiu-Fen Lee, Ching-Shiang Chi, et al.
Orphanet Journal of Rare Diseases|October 30, 2015
Review and comparison of clinical evidence submitted to support European Medicines Agency market authorization of orphan-designated oncological treatmentsJulie Winstone, Shkun Chadda, Stephen Ralston, et al.
Orphanet Journal of Rare Diseases|November 2, 2015
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type IISung Yoon Cho, Jeehun Lee, Ah-Ra Ko, et al.
Orphanet Journal of Rare Diseases|November 27, 2015
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centersAlena Welters, Christian Lerch, Sebastian Kummer, et al.
Orphanet Journal of Rare Diseases|December 3, 2015
Zellweger spectrum disorders: clinical overview and management approachFemke C C Klouwer, Kevin Berendse, Sacha Ferdinandusse, et al.
Orphanet Journal of Rare Diseases|May 14, 2016
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatmentEvangelos Minos, Robert J Barry, Sue Southworth, et al.
Orphanet Journal of Rare Diseases|May 14, 2016
Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug actThomas Lutz, Anette Lampert, Georg F Hoffmann, et al.
Orphanet Journal of Rare Diseases|May 18, 2016
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging studySteven Shinn-Forng Peng, Wuh-Liang Hwu, Ni-Chung Lee, et al.
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