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Orphanet Journal of Rare Diseases|June 3, 2025
Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature reviewTiange Xie, Na Xu, He Zhao, et al.
Orphanet Journal of Rare Diseases|June 3, 2025
The association of factor VIII activity levels with bleeding and quality of life in haemophilia a: findings from the European CHESS II studyCheryl Jones, Yunchou Wu, Nana Kragh, et al.
Orphanet Journal of Rare Diseases|May 28, 2025
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR nodeLaura Mantoan Ritter, Nicholas M P Annear, Emma L Baple, et al.
Orphanet Journal of Rare Diseases|June 4, 2025
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregiversMaria Grazia Cattinari, Samuel Ignacio Pascual-Pascual, Mencía de Lemus, et al.
Orphanet Journal of Rare Diseases|June 7, 2025
A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney developmentRong Zhao, Yali Fan, Jieyan Li, et al.
Orphanet Journal of Rare Diseases|June 5, 2025
An underestimated factor for therapeutic decision-making in rare diseases: parents' (un)knowledge-the example of Duchenne muscular dystrophy caregivers and non-invasive ventilationEliza Wasilewska, Andrzej Wasilewski, Ewa Pilarska, et al.
Orphanet Journal of Rare Diseases|September 25, 2026
Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS)Claudia Busch, Marco Richard Zugaj, Nelly Zental, et al.
Orphanet Journal of Rare Diseases|October 9, 2026
Lower mitochondrial DNA copy number in ATTRV50M Swedish carriersGabriella Johannson, Malin Olsson, Marina Rubio Garcia, et al.
Orphanet Journal of Rare Diseases|October 9, 2026
Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapyAnnabelle Volk, Jan Wildner, Johannes Birtel, et al.
Orphanet Journal of Rare Diseases|October 23, 2026
Screening of fabry disease in patients with left ventricular hypertrophy: a single-center study in MexicoDante Palacios Gutierrez, Gabriela Meléndez-Ramirez, Edith Liliana Posada Martínez, et al.
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