1. Centrum för sällsynta diagnoser (CSD), Karolinska Universitetslaboratoriet
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3. Vandeborne L, etal. Orphanet J Rare Dis 2019;14(1):99.
4. The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
5. Marta De Santis, Clara Hervas, Ariane Weinman, Valentina Bottarelli, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy, EURORDIS – Rare Disases Europe
6. https://www.eurordis.org/rare-disease-moonshot/