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Therapeutic Advances in Rare Disease|April 30, 2025
Navigating gynaecological challenges in Gaucher's disease: insights from five European countriesLjubas Dominik, Krstulović Opara Anđela, Wagner Jasenka, et al.Therapeutic Advances in Rare Disease|March 5, 2026
The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitisGerry Nesbitt, Alexandra CurleyTherapeutic Advances in Rare Disease|March 2, 2026
Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe diseaseRobert J Hopkin, Barry J Byrne, Mazen M Dimachkie, et al.Therapeutic Advances in Rare Disease|June 26, 2023
Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected!Mona Kenani, Rafaa Babgi, Sultan BakriTherapeutic Advances in Rare Disease|April 29, 2024
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspectivePangkong M Fox, Sunitha Malepati, Lisa Manaster, et al.Therapeutic Advances in Rare Disease|August 1, 2026
Cancer prevalence in primary mitochondrial disease patients and their familiesShrey Dalwadi, Nicole M Engelhardt, Colleen C Muraresku, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Quality of life in Barth syndromeAlexander Y Kim, Hilary Vernon, Ryan Manuel, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Primary ovarian malignant mixed Müllerian tumor: a rare case reportSunil V Jagtap, Shubham S Jagtap, Rashmi Gudur, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Congenital cataract: a guide to genetic and clinical managementSuzannah J Bell, Ngozi Oluonye, Philippa Harding, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case reportFaizal Z Asumda, Jessica A Kraker, Sarah C Thomas, et al.Pageof 13