Rare disease realities: Patient perspectives across the EU

References

[1] Fabry Disease. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/16235-fabry-disease 

[2] Familial Hemophagocytic Lymphohistiocytosis. National Library of Medicine. https://www.ncbi.nlm.nih.gov/books/NBK1444/ 

[3] Autosomal recessive congenital ichthyosis 4B. National Library of Medicine.  https://www.ncbi.nlm.nih.gov/medgen/108615

[4] European Reference Networks. European Commission. https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks_en 

[5] CRA Insights. A Landscape Assessment of Newborn Screening (NBS) in Europe. Charles River Associates. https://media.crai.com/wp-content/uploads/2021/11/28135510/CRA-Insights-NBS-Policy-Updated-28-February-2024-vSTCCR.pdf