1. Shire. Rare disease impact report: insights from patients and the medical community. 2013. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
2. Diseases. GARD: Genetic and Rare Diseases Information Center. National Institutes of Health, https://rarediseases.info.nih.gov/diseases.
3. Field MJ, Boat TF, Institute of Medicine (US), National Academies Press (US), eds. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington (DC): National Academies Press; 2010.
4. The challenge of rare diseases;Stoller,2018
5. Iyer AA, Barzilay JR, Tabor HK. Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study. Genet Med. 2020;22:1830–1837. https://doi.org/10.1038/s41436-020-0890-6.