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Orphanet Journal of Rare Diseases|April 30, 2021
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter studyNicholas M Bernthal, Geert Spierenburg, John H Healey, et al.
Orphanet Journal of Rare Diseases|June 14, 2020
Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in GermanyErik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, et al.
Orphanet Journal of Rare Diseases|November 12, 2022
Clinical management guidelines for Friedreich ataxia: best practice in rare diseasesLouise A Corben, Veronica Collins, Sarah Milne, et al.
Orphanet Journal of Rare Diseases|November 12, 2022
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormoneDiana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, et al.
Orphanet Journal of Rare Diseases|August 17, 2021
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysisFederica Pondrelli, Lorenzo Muccioli, Laura Licchetta, et al.
Orphanet Journal of Rare Diseases|November 8, 2022
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosaRachel Box, Catina Bernardis, Alexander Pleshkov, et al.
Orphanet Journal of Rare Diseases|November 10, 2022
Genetic analysis of 55 cases with fetal skeletal dysplasiaYing Bai, Yue Sun, Ning Liu, et al.
Orphanet Journal of Rare Diseases|December 9, 2025
Potential role of the comprehensive tooth extraction procedure in preventing medication related osteonecrosis of the jaw (MRONJ): a prospective cohort studyYi Wang, Yu Zhang, Dengke Li, et al.
Orphanet Journal of Rare Diseases|December 13, 2025
Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutationNannan Qian, Taohua Wei, Yufei Qian, et al.
Orphanet Journal of Rare Diseases|November 28, 2025
Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experienceMariagrazia Turturo, Alessandro Rossi, Ferdinando Barretta, et al.
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