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Orphanet Journal of Rare Diseases|May 7, 2025
Leber hereditary optic neuropathy: utilities and carer burden from British and Irish participantsClaire Lawrence, Emma Williams, Andrew Mumford, et al.Orphanet Journal of Rare Diseases|May 9, 2025
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD SurveyMichelangelo Mancuso, Alessandro Colitta, Manuela Lavorato, et al.Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.Orphanet Journal of Rare Diseases|April 29, 2025
European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep ((D)EE-SWAS)Dilan Canbay, Floor E Jansen, Jan Schönberger, et al.Orphanet Journal of Rare Diseases|April 26, 2025
Perspectives on the current diagnostic and treatment paradigms in secondary hemophagocytic lymphohistiocytosis (HLH)Leonard Naymagon, Philip Roehrs, Michelle Hermiston, et al.Orphanet Journal of Rare Diseases|October 23, 2025
Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experienceHongfei Ju, Jun Wang, Xinyue Wang, et al.Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.Orphanet Journal of Rare Diseases|October 22, 2025
"To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1Katarzyna Kowal, Jan DomaradzkiOrphanet Journal of Rare Diseases|October 18, 2025
Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese populationHongyang Wang, Tao Shi, Wenjia Wang, et al.Orphanet Journal of Rare Diseases|October 15, 2025
Perspectives on the FDA platform technology designation program for the approval of gene therapies: a Swiss multi-stakeholder exploratory interview studyYi Han, Kelly E OrmondPageof 477