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Orphanet Journal of Rare Diseases|September 24, 2025
Zebrafish models for congenital disorders of glycosylation (CDG): a systematic reviewN Gandoy-Fieiras, M I Quiroga, L Sánchez
Orphanet Journal of Rare Diseases|September 23, 2025
Tissue and systemic inflammation in dystrophic epidermolysis bullosa: a systematic review and meta-analysisMeropi Karakioulaki, Nana-Adjoa Kwarteng, Adriani Nikolakopoulou, et al.
Orphanet Journal of Rare Diseases|September 24, 2025
Exercise capacity in RYR1-related myopathiesLisa M K Chin, Joshua J Todd, Irene C Chrismer, et al.
Orphanet Journal of Rare Diseases|September 24, 2025
Gestational trophoblastic neoplasia with pancreatic metastasis: clinical characteristics, treatment strategies, and outcomesXinghan Cheng, Dan Wang, Xiaoyu Wang, et al.
Orphanet Journal of Rare Diseases|May 12, 2025
Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case seriesBertrand Roquelaure, Marco Sciveres, Tassos Grammatikopoulos, et al.
Orphanet Journal of Rare Diseases|May 26, 2025
Elevated level of circulating VEGF in Chinese patients with hereditary angioedema and its correlation with disease statusRuoyu Ji, Yijing Xu, Yuxiang Zhi
Orphanet Journal of Rare Diseases|May 10, 2025
The cost of the diagnostic odyssey of patients with suspected rare diseasesRick Glaubitz, Luise Heinrich, Falko Tesch, et al.
Orphanet Journal of Rare Diseases|July 11, 2025
Determinants of fatigue in patients with Marfan syndrome: a study using PROMSInes Cavalier, Leslie Toko Kamga, Laurence Morin, et al.
Orphanet Journal of Rare Diseases|July 29, 2025
Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delayJun-Ping Jiao, Hong-Wei Zhang, Xi-Zhong Zhou, et al.
Orphanet Journal of Rare Diseases|July 10, 2025
Epigenetic regulation in spinal muscular atrophy: emerging areas and future directionsHaoran Li, Bo Yu, Ye Yuan, et al.
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