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Orphanet Journal of Rare Diseases|January 26, 2023
Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseasesXuefeng Lai, Yuling Jiang, Yue Sun, et al.
Orphanet Journal of Rare Diseases|October 18, 2023
Parental Intervention Program for Preschool children with Rare Diseases - a mixed methods evaluation of parents' experiences and utilityGry Velvin, Vigdis Johnsen, Ingeborg Beate Lidal, et al.
Orphanet Journal of Rare Diseases|May 7, 2026
Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosisNathalia Conci Santorio, Anna Christina de Lima Ribeiro, Nilson Bossle Conci, et al.
Orphanet Journal of Rare Diseases|May 15, 2026
Total colonic aganglionosis: a bibliometric analysis of trends and themes (1978-2024)Jing Sun, Xiaoli Xie, Fei Liu, et al.
Orphanet Journal of Rare Diseases|May 7, 2026
Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative studyCinzia Pilo, Laura Benedan, Valentina Morra, et al.
Orphanet Journal of Rare Diseases|June 13, 2026
Clinical features, outcome and HLA subtypes in Eastern patients with anti-IgLON5 disease: a multicenter studyYining Gao, Xiaobo Sun, Yifan Zhou, et al.
Orphanet Journal of Rare Diseases|August 7, 2026
Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalitiesGrazia Crescimanno, Oreste Marrone, Marta Lazzeri, et al.
Orphanet Journal of Rare Diseases|July 31, 2026
Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy CouncilAgnès Farrugia, Ahmed Bahey, Ahmad Tarawah, et al.
Orphanet Journal of Rare Diseases|October 7, 2026
Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT studySufin Yap, Elena Procopio, Alessandro Rossi, et al.
Orphanet Journal of Rare Diseases|May 23, 2025
Epidemiological insights and healthcare challenges of tuberous sclerosis complex in Shizuoka Prefecture: a retrospective cohort studySatoshi Kishida, Eiji Nakatani, Takeshi Usui, et al.
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