Lost in the System: The Labyrinth of Rare Disease Diagnosis
Author:
Affiliation:
1. Mendelian, London, UK
Publisher
European Medical Group
Reference9 articles.
1. Haendel M et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19(2):77-8.
2. RARE-X. The power of being counted. 2022. Available at: https://rare-x.org/case-studies/the-power-of-being-counted/. Last accessed: 15 March 2024.
3. Tambuyzer E et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat Rev Drug Discov. 2022;19(2):93-111.
4. EURORDIS Rare Diseases Europe. Earlier, faster and more accurate diagnosis. Available at: https://www.eurordis.org/our-priorities/diagnosis/. Last accessed: 15 March 2024.
5. Hampson C et al. Measuring the impact of the COVID-19 pandemic on diagnostic delay in rare disease. EMJ. 2022; DOI/10.33590/emj/21-00181.
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