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Orphanet Journal of Rare Diseases|February 25, 2022
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, et al.
Orphanet Journal of Rare Diseases|March 3, 2022
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalenceC Catsburg, S Anderson, N Upadhyaya, et al.
Orphanet Journal of Rare Diseases|March 3, 2022
Rosai-Dorfman-Destombes disease of the nervous system: a systematic literature reviewRuham Alshiekh Nasany, Anne S Reiner, Jasmine H Francis, et al.
Orphanet Journal of Rare Diseases|March 3, 2022
Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)Paola Palao-Ocharan, Nieves Prior, Elia Pérez-Fernández, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressivaSamuel Kou, Sammi Kile, Sai Samhith Kambampati, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 geneDahae Yang, Sanghyun Cho, Sung Im Cho, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Perfect match: mTOR inhibitors and tuberous sclerosis complexCong Luo, Wen-Rui Ye, Wei Shi, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort descriptionG Ismailova, M J Mackenbach, J M P van den Hout, et al.
Orphanet Journal of Rare Diseases|July 7, 2019
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differencesYi Ji, Siyuan Chen, Suhua Peng, et al.
Orphanet Journal of Rare Diseases|June 29, 2019
Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut)Laura Guarga, Xavier Badia, Mercè Obach, et al.
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