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Orphanet Journal of Rare Diseases|November 6, 2025
Sphingolipids in Gaucher disease: a systematic reviewAshleigh Lake, Maria Fuller
Orphanet Journal of Rare Diseases|October 22, 2025
Femoral head vascular status in early-stage Legg-Calvé-Perthes disease assessed by contrast-enhanced magnetic resonance imaging: comparison with the contralateral sideShiyu Huang, Xiang Cheng, Sijie Gao, et al.
Orphanet Journal of Rare Diseases|October 1, 2025
Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ)Hetanshi Naik, Susan D Mathias, Michelle P Turner, et al.
Orphanet Journal of Rare Diseases|October 1, 2025
Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosisZhenzhu Zheng, Weilin Peng, Yiming Lin, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis datasetNatasha M Appelman-Dijkstra, Mariya Cherenko, Gavin P R Clunie, et al.
Orphanet Journal of Rare Diseases|July 4, 2025
Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8Xingru Ding, Jinghan Yang, Xiao Han, et al.
Orphanet Journal of Rare Diseases|July 10, 2025
Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based studyDoHyeon Lee, Samel Park, Hyejin Yu, et al.
Orphanet Journal of Rare Diseases|July 10, 2025
Machine learning identifies lipid-associated genes and constructs diagnostic and prognostic models for idiopathic pulmonary fibrosisXingren Liu, Junmei Song, Shujin Guo, et al.
Orphanet Journal of Rare Diseases|July 10, 2025
Thalassemia in Bangladesh: progress, challenges, and a strategic blueprint for preventionMohammad Sorowar Hossain, Farhin Islam, Selina Akhter, et al.
Orphanet Journal of Rare Diseases|July 7, 2025
Physical fitness and level of physical activity in adult patients with Marfan syndromeMadelene Nordeborn, Nanna Brandt, Åsa Cider, et al.
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