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Orphanet Journal of Rare Diseases|June 24, 2019
Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström's diseaseF S van Leersum, J Potjewijd, M van Geel, et al.
Orphanet Journal of Rare Diseases|February 23, 2022
Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort studyCarl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, et al.
Orphanet Journal of Rare Diseases|June 5, 2019
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical careMarie De Antonio, Céline Dogan, Ferroudja Daidj, et al.
Orphanet Journal of Rare Diseases|June 5, 2019
Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public healthIlária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, et al.
Orphanet Journal of Rare Diseases|June 9, 2019
Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in CanadaFernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, et al.
Orphanet Journal of Rare Diseases|June 9, 2019
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular diseaseAnna Ambrosini, Ros Quinlivan, Valeria A Sansone, et al.
Orphanet Journal of Rare Diseases|June 6, 2019
Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort studyLisa Friedlander, Ariane Berdal, Priscilla Boizeau, et al.
Orphanet Journal of Rare Diseases|May 16, 2019
Screening for neuropathic pain in patients with sickle cell disease: is a single assessment scale sufficient?Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, et al.
Orphanet Journal of Rare Diseases|October 17, 2019
Update on the management of colchicine resistant Familial Mediterranean Fever (FMF)Georges El Hasbani, Ali Jawad, Imad Uthman
Orphanet Journal of Rare Diseases|April 20, 2022
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)H Mosbah, B Donadille, C Vatier, et al.
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