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Orphanet Journal of Rare Diseases|September 21, 2014
Simpson-Golabi-Behmel syndrome types I and IIJair Tenorio, Pedro Arias, Víctor Martínez-Glez, et al.
Orphanet Journal of Rare Diseases|May 6, 2016
Disease burden of spinal muscular atrophy in GermanyConstanze Klug, Olivia Schreiber-Katz, Simone Thiele, et al.
Orphanet Journal of Rare Diseases|November 8, 2020
Chronic lymphedema in patients with kaposiform hemangioendothelioma: incidence, clinical features, risk factors and managementYi Ji, Siyuan Chen, Chuncao Xia, et al.
Orphanet Journal of Rare Diseases|November 10, 2020
Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequateJulie McMullan, Ashleen L Crowe, Caitlin Bailie, et al.
Orphanet Journal of Rare Diseases|November 5, 2020
A retrospective review of the contribution of rare diseases to paediatric mortality in IrelandEmer Gunne, Cliona McGarvey, Karina Hamilton, et al.
Orphanet Journal of Rare Diseases|November 1, 2020
Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysisTim T A Bender, Judith Leyens, Julia Sellin, et al.
Orphanet Journal of Rare Diseases|June 10, 2021
Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseasesKathleen L Miller, Lewis J Fermaglich, Janet Maynard
Orphanet Journal of Rare Diseases|June 10, 2021
Deliberate paradigm shift in research in rare neurodevelopmental disordersJennifer M Bain, Adel Ardalan, Sylvie Goldman
Orphanet Journal of Rare Diseases|June 11, 2021
Outcome of L-DEP regimen for treatment of pediatric chronic active Epstein-Barr virus infectionHonghao Ma, Liping Zhang, Ang Wei, et al.
Orphanet Journal of Rare Diseases|June 11, 2021
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1Yiping Cheng, Jing Chen, Xinli Zhou, et al.
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