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Orphanet Journal of Rare Diseases|May 21, 2017
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year studyLisa Friedlander, Rémy Choquet, Eva Galliani, et al.
Orphanet Journal of Rare Diseases|June 10, 2017
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I diseaseYu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, et al.
Orphanet Journal of Rare Diseases|June 21, 2017
Prenatal brain disruption in isolated sulfite oxidase deficiencyHsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, et al.
Orphanet Journal of Rare Diseases|June 28, 2017
Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type IIIArunabha Ghosh, Elsa Shapiro, Stewart Rust, et al.
Orphanet Journal of Rare Diseases|February 5, 2010
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009Sébastien Héritier, Martine Le Merrer, Francis Jaubert, et al.
Orphanet Journal of Rare Diseases|June 19, 2017
Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disordersKyeongsoon Kim, Hynda K Kleinman, Hahn-Jun Lee, et al.
Orphanet Journal of Rare Diseases|April 26, 2017
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicityNikolas Boy, Jana Heringer, Renate Brackmann, et al.
Orphanet Journal of Rare Diseases|April 29, 2017
Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic centerThomas Ness, Daniel Boehringer, Sonja Heinzelmann
Orphanet Journal of Rare Diseases|May 13, 2017
Probable DRESS syndrome induced by IL-1 inhibitorsL Polivka, J S Diana, A Soria, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravisStephanie S Weinreich, Charlotte Vrinten, Marja R Kuijpers, et al.
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