1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:4-12.
2. Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int. 2012;2012:471325.
3. Archer LD, Langford-Smith KJ, Bigger BW, Fildes JE. Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity. J Inherit Metab Dis. 2014;37(1):1-12.
4. Leone A, Rigante D, Amato DZ, Casale R, Pedone L, Magarelli N, Colosimo C. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31(2):203-12.
5. Cimaz R, La Torre F. Mucopolysaccharidoses. Curr Rheumatol Rep. 2014;16(1):389.
6. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5(1):5.
7. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118.
8. Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12(6):931-45.
9. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):137.
10. Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61.
11. Forsythe LP, Szydlowski V, Murad MH, Ip S, Wang Z, Elraiyah TA, et al. A systematic review of approaches for engaging patients for research on rare diseases. J Gen Intern Med. 2014;29(Suppl 3):S788-800.
12. Young K, Kaminstein D, Olivos A, Burroughs C, Castillo-Lee C, Kullman J, et al. Patient involvement in medical research: what patients and physicians learn from each other. Orphanet J Rare Dis. 2019;14(1):21.
13. Litzkendorf S, Babac A, Rosenfeldt D, Schauer F, Hartz T, Lührs V, et al. Information needs of people with rare diseases - what information do patients and their relatives require? Rare Disord Diagn Ther. 2016;2:2.
14. Uhlenbusch N, Löwe B, Depping MK. Perceived burden in dealing with different rare diseases: a qualitative focus group study. BMJ Open. 2019;9(12):e033353.
15. Nunn E, Pinfield S. Lay summaries of open access journal articles: engaging with the general public on medical research. Learn Publ. 2014;27:173-84.
16. Pushparajah DS, Manning E, Michels E, Arnaudeau-Bégard C. Value of developing plain language summaries of scientific and clinical articles: a survey of patients and physicians. Ther Innov Regul Sci. 2018;52(4):474-81.
17. Murad MH. Clinical Practice Guidelines: A primer on development and dissemination. Mayo Clin Proc. 2017;92(3):423-33.
18. Pavan S, Rommel K, Mateo Marquina ME, Höhn S, Lanneau V, Rath A. Clinical practice guidelines for rare diseases: The Orphanet Database. PLoS One. 2017;12(1):e0170365.
19. Muir E. The Rare Reality – an insight into the patient and family experience of rare disease. Rare Disease UK. 2016. Available at: https://www.raredisease.org.uk/media/1588/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf. Last accessed June 2021.
20. Balkac M, Ergun E. Role of infographics in healthcare. Chin Med J (Engl). 2018;131(20):2514-7.
21. Martin LJ, Turnquist A, Groot B, Huang SYM, Kok E, Thoma B, et al. Exploring the role of infographics for summarizing medical literature. Health Prof Edu. 2019;5(1):48-57.
22. Martínez Silvagnoli L, Shepherd C, Pritchett J, Gardner J. How can we optimize the readability and format of plain language summaries for medical journal articles? A cross-sectional survey study. J Med Internet Res. 2020;22122. Available at: https://jmir.org/preprint/22122.
23. von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758-73.
24. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486.
25. European Medicines Agency. Naglazyme (galsulfase). Summary of product characteristics. 2020. Available at: https://www.ema.europa.eu/en/documents/product-information/naglazyme-epar-product-information_en.pdf. Last accessed June 2021.
26. US Food and Drug Administration. Naglazyme (galsulfase). US prescribing information. 2019. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2019/125117s129lbl.pdf. Last accessed June 2021.
27. European Medicines Agency. Vimizim (elosulfase alfa). Summary of product characteristics. 2018. Available at: https://www.ema.europa.eu/en/documents/product-information/vimizim-epar-product-information_en.pdf. Last accessed June 2021.
28. US Food and Drug Administration. Vimizim (elosulfase alfa). US prescribing information. 2019. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2019/125460s017lbl.pdf. Last accessed June 2021.