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Orphanet Journal of Rare Diseases|August 10, 2023
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based studyCaroline Sevin, Samira Hatteb, Aurore Clément, et al.Orphanet Journal of Rare Diseases|August 11, 2023
Living with a rare disease - experiences and needs in pediatric patients and their parentsStefanie Witt, Katharina Schuett, Silke Wiegand-Grefe, et al.Orphanet Journal of Rare Diseases|August 12, 2023
The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCORobert A Stockley, Anita Pye, Joshua De Soyza, et al.Orphanet Journal of Rare Diseases|August 9, 2023
Pathogenic mechanisms of osteogenesis imperfecta, evidence for classificationHongjie Yu, Changrong Li, Huixiao Wu, et al.Orphanet Journal of Rare Diseases|August 4, 2023
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experienceAnna Łusakowska, Adrianna Wójcik, Anna Frączek, et al.Orphanet Journal of Rare Diseases|August 4, 2023
PAI1 inhibits the pathogenesis of primary focal hyperhidrosis by targeting CHRNA1Jian-Feng Chen, Min Lin, Xu Li, et al.Orphanet Journal of Rare Diseases|April 10, 2026
Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutationLaura Peretto, Mirko Pinotti, Dario BalestraOrphanet Journal of Rare Diseases|April 23, 2024
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot studyHui-Ling Lin, Qing-Qing Zheng, Ru-Lin Huang, et al.Orphanet Journal of Rare Diseases|April 18, 2024
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims dataKathleen L Deering, Niccole J Larsen, Patrick Loustau, et al.Orphanet Journal of Rare Diseases|April 19, 2024
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare diseaseMariam Al-Attar, Sondra Butterworth, Lucy McKayPageof 477