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Orphanet Journal of Rare Diseases|November 21, 2021
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry diseaseYevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, et al.
Orphanet Journal of Rare Diseases|November 25, 2021
Development and content validation of a symptom assessment for eosinophilic gastritis and eosinophilic gastroenteritis in adults and adolescentsCalvin N Ho, Sean O'Quinn, Julie Bailey, et al.
Orphanet Journal of Rare Diseases|March 18, 2021
Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM)Lisha Shen, Whenshuai Xu, Jinsong Gao, et al.
Orphanet Journal of Rare Diseases|December 3, 2021
RASopathies and hemostatic abnormalities: key role of platelet dysfunctionFrancesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, et al.
Orphanet Journal of Rare Diseases|November 17, 2021
Italian national consensus statement on management and pharmacological treatment of phenylketonuriaAlberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, et al.
Orphanet Journal of Rare Diseases|November 19, 2021
Extranodal natural killer/T-cell lymphoma of the breast: a retrospective clinicopathological analysis of a consecutive 11-year case seriesWei Liu, Zihang Chen, Fanglan Li, et al.
Orphanet Journal of Rare Diseases|November 19, 2021
Identification and treatment of primary cervical gestational trophoblastic neoplasia: a retrospective study of 13 patients and literature reviewXiaoyu Wang, Junjun Yang, Xirun Wan, et al.
Orphanet Journal of Rare Diseases|November 5, 2021
Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literatureXiaowen Song, Zhi Li
Orphanet Journal of Rare Diseases|February 20, 2019
Patient access to orphan drugs in FranceMarion Bourdoncle, Blandine Juillard-Condat, Florence Taboulet
Orphanet Journal of Rare Diseases|November 14, 2018
Federating patients identities: the case of rare diseasesMeriem Maaroufi, Paul Landais, Claude Messiaen, et al.
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