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Orphanet Journal of Rare Diseases|October 12, 2023
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scoresVaiva Deltuvaite-Thomas, Mickaël De Backer, Samantha Parker, et al.
Orphanet Journal of Rare Diseases|September 5, 2023
The metabolomic plasma profile of patients with Duchenne muscular dystrophy: providing new evidence for its pathogenesisHuayan Xu, Xiaotang Cai, Ke Xu, et al.
Orphanet Journal of Rare Diseases|May 1, 2026
Recovery of cardiac function in Desmin cardiomyopathy with medical therapyMengdi Yu, Lutong Pu, Jie Wang, et al.
Orphanet Journal of Rare Diseases|April 30, 2026
Clinical spectrum, diagnosis, cognitive outcomes and therapeutic strategies in pediatric Rasmussen syndrome: a 10-year cohort from a tertiary pediatric centerVerónica Cantarín-Extremera, Maria Ballarà-Petitbò, María Jiménez-Legido, et al.
Orphanet Journal of Rare Diseases|June 9, 2026
Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disordersCuiting Peng, Jun Ren, Fan Zhou, et al.
Orphanet Journal of Rare Diseases|June 12, 2026
Exploring a cherubism bone phenotype outside the craniofacial regionAnne Morice, Philippe Drabent, Sylvie Thomasseau, et al.
Orphanet Journal of Rare Diseases|June 12, 2026
Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten diseaseBeate Oerbeck, Ingrid B Helland, Heather R Adams, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional studyMei Yao, Ying Ma, Ruiying Qian, et al.
Orphanet Journal of Rare Diseases|May 11, 2021
The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2Louisa Ammann-Schnell, Samuel Groeschel, Christiane Kehrer, et al.
Orphanet Journal of Rare Diseases|January 10, 2019
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practicesNataliya Yuskiv, Beth K Potter, Sylvia Stockler, et al.
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