@article{Zhang_H-2025_197030,
title = {Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study},
author = {Zhang, H. and Issa, H. and Wu, J. and Hama, T. and Phiho-Gomes, A. and Groza, T. and Khalid, S. and Lumbers, T. and Hocaoglu, M. and Khunti, K. and Priedon, R. and Banerjee, A. and Pontikos, N. and Tomlinson, C. and Torralbo, A. and Taylor, P. and Sudlow, C. and Denaxas, S. and Hemingway, H. and Wu, H. and Thygesen, J.},
month = {feb},
year = {2025},
abstract = {BACKGROUND: The Global Burden of Disease Study has provided key evidence to inform clinicians, researchers, and policy makers across common diseases, but no similar effort with a single-study design exists for hundreds of rare diseases. Consequently, for many rare conditions there is little population-level evidence, including prevalence and clinical vulnerability, resulting in an absence of evidence-based care that was prominent during the COVID-19 pandemic. We aimed to inform rare disease care by providing key descriptors from national data and explore the impact of rare diseases during the COVID-19 pandemic.},
pages = {E145-E156},
volume = {7},
issue = {2},
journal = {The Lancet Digital Health},
publisher = {Elsevier},
url = {https://doi.org/10.1016/S2589-7500(24)00253-X},
}
