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Orphanet Journal of Rare Diseases|July 23, 2025
"It's like nursing a butterfly-so delicate, difficult, and unpredictable" - challenges of nurses in caring for patients with epidermolysis bullosa: a qualitative studyParivash Karimi, Moloud Radfar, Yaser Moradi
Orphanet Journal of Rare Diseases|July 17, 2025
In vivo applications and toxicities of AAV-based gene therapies in rare diseasesQian Zhao, Huifang Peng, Yujin Ma, et al.
Orphanet Journal of Rare Diseases|May 30, 2025
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determinationDitte K Rasmussen, Young Joo Sun, Joel A Franco, et al.
Orphanet Journal of Rare Diseases|June 23, 2025
The clinical phenotypes and therapeutic strategies for stiff skin syndrome: a case series with literature reviewCaihui Zhang, Sihao Gao, Zhixing Sun, et al.
Orphanet Journal of Rare Diseases|June 20, 2025
Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysisAbdelaziz A Awad, Ambana Yappalparvi, Mahalaqua Nazli Khatib, et al.
Orphanet Journal of Rare Diseases|June 16, 2025
Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsiesVictoria M Defelippe, Eva H Brilstra, Willem M Otte, et al.
Orphanet Journal of Rare Diseases|October 7, 2025
Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency managementTanjana Harings, Thilo Bertsche, Alena Gerlinde Thiele, et al.
Orphanet Journal of Rare Diseases|November 4, 2025
Knowledge mapping and bibliometric insights into gene therapy for rare inherited hematologic pathologies: focus on sickle cell disease, hemophilia, and thalassemiaMoutaz W Sweileh
Orphanet Journal of Rare Diseases|November 5, 2025
Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseasesGeorg Wolfgang Sendtner, Martin Muecke, Lorenz Grigull, et al.
Orphanet Journal of Rare Diseases|November 4, 2025
Differentiation of light chain cardiac amyloidosis and hypertrophic cardiomyopathy by ensemble machine learning-based radiomic analysis of cardiac magnetic resonanceShuyuan Zhang, Yubo Guo, Yuze Gao, et al.
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