REFERENCES
1. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Feldman J, Mirzaa GM, et al, Editors. GeneReviews® [Internet]. Seattle: University of Washington; 2002 [Updated 2024 Apr 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1292/?utm_source [Last accessed on 27 October 2025].
2. Bokhari SR, Zulfiqar H, Hariz A. Fabry disease. In: StatPearls [Internet]. Island (FL): StatPearls Publishing; 2024 [Updated 2023 Jul 4]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK435996/?utm_source [Last accessed on 27 October 2025].
3. Orphanet. Fabry Disease. Updated 2022. Available from: https://www.orpha.net/en/disease/detail/324 [Last accessed on 27 October 2025].
4. Desnick RJ, Ioannou YA, Eng CM. α-galactosidase a deficiency: Fabry disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, Editors. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Education; 2019. Available from: https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546984 [Last accessed on 27 October 2025].
5. Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28:1631-41.
6. Berry L, Walter J, Johnson J, et al. Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents. Orphanet J Rare Dis. 2024;19:153.
7. British Inherited Metabolic Disease Group. Guidelines for the treatment of Fabry Disease; 2025. Available from: https://bimdg.org.uk/wp-content/uploads/2025/07/2025.05.30.Fabry-Clinical-Guidance.pdf [Last accessed on 27 October 2025].
8. National Institute for Health and Care Excellence. Shared decision making; 2021. Available from: https://www.nice.org.uk/guidance/ng197/resources/shared-decision-making.pdf-66142087186885 [Last accessed on 27 October 2025].
10. Coulter A, Edwards A, Elwyn G, Thomson R. Implementing shared decision making in the UK. Z Evid Fortbild Qual Gesundhwes. 2011;105:300-4.
11. General Medical Council. Decision making and consent; 2020. Available from: https://www.gmc-uk.org/professional-standards/professional-standards-for-doctors/decision-making-and-consent [Last accessed on 27 October 2025].
12. Hahlweg P, Bieber C, Levke Brütt A, et al. Moving towards patient-centered care and shared decision-making in Germany. Z Evid Fortbild Qual Gesundhwes. 2022;171:49-57.
13. Davidson KW, Mangione CM, Barry MJ, et al.; US Preventive Services Task Force. Collaboration and shared decision-making between patients and clinicians in preventive health care decisions and US preventive services task force recommendations. JAMA 2022;327:1171-6.
14. Moumjid N, Durand MA, Carretier J, et al. Implementation of shared decision-making and patient-centered care in France: towards a wider uptake in 2022. Z Evid Fortbild Qual Gesundhwes. 2022;171:42-8.
15. Matlock DD, Jackson LR 2nd, Sandhu A, Scherer LD. Past, present, and future of shared decision-making. Circ Cardiovasc Qual Outcomes. 2024;17:e010584.
16. Hughes DA, Evans E, Milligan A, Richfield L, Mehta A. A multidisciplinary approach to the care of patients with Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, Editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford Pharmagenesis; 2006. Chapter 35. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11587/ [Last accessed on 29 October 2025].
17. Care Quality Commission. Better care in my hands: a review of how people are involved in their care; 2016. Available from: https://www.cqc.org.uk/publications/themed-work/better-care-my-hands-review-how-people-are-involved-their-care [Last accessed on 27 October 2025].
18. Babac A, von Friedrichs V, Litzkendorf S, Zeidler J, Damm K, Graf von der Schulenburg JM. Integrating patient perspectives in medical decision-making: a qualitative interview study examining potentials within the rare disease information exchange process in practice. BMC Med Inform Decis Mak. 2019;19:188.
19. Inagaki N, Tsuchiya M, Otani K, Nakayama T. Shared decision making between patients with Fabry disease and physicians in Japan: an online survey. Mol Genet Metab Rep. 2022;32:100899.
21. National Institute for Health and Care Excellence. Pegunigalsidase alfa for treating Fabry disease; 2023. Available from: https://www.nice.org.uk/guidance/ta915 [Last accessed on 27 October 2025].
22. Joseph-Williams N, Chakrapani A, Collin-Histed T, Greeney J, Gregory D. Shared decision making in rare disease in the United Kingdom, White Paper; 2021. Available from: https://www.researchgate.net/publication/395133038_White_Paper_-_SDM_in_Rare_Disease_White_Paper [Last accessed on 27 October 2025].
23. Hughes DA, Aguiar P, Lidove O, et al. Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? Orphanet J Rare Dis. 2022;17:42.
24. Stacey D, Lewis KB, Smith M, et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev. 2024;1:CD001431.
25. Braun V, Clarke V. Reflecting on reflexive thematic analysis. Qualitative Research in Sport, Exercise and Health. 2019;11:589-97.
26. PMCPA. 2021 interactive ABPI Code of Practice; 2021. Available from: https://www.pmcpa.org.uk/the-code/previous-abpi-codes-of-practice/2021-interactive-abpi-code-of-practice/ [Last accessed on 27 October 2025].
27. BHBIA legal and ethical guidelines for healthcare market research: your essential guide; 2024. Available from: https://www.bhbia.org.uk/guidelines-and-legislation/legal-and-ethical-guidelines [Last accessed on 27 October 2025].
28. National Institute for Health and Care Excellence. Standards framework for shared-decision-making support tools, including patient decision aids; 2021. Available from: https://www.nice.org.uk/corporate/ecd8 [Last accessed on 27 October 2025].
29. MPS Society. Living well with Fabry: a shared decision-making toolkit; 2024. Available from: https://mpssociety.org.uk/resources/living-well-with-fabry [Last accessed on 27 October 2025].
30. Col NF, Solomon AJ, Springmann V, et al. Whose Preferences matter? A patient-centered approach for eliciting treatment goals. Med Decis Making. 2018;38:44-55.
31. Joseph-Williams N, Lloyd A, Edwards A, et al. Implementing shared decision making in the NHS: lessons from the MAGIC programme. BMJ. 2017;357:j1744.
32. Edwards A, Elwyn G. Inside the black box of shared decision making: distinguishing between the process of involvement and who makes the decision. Health Expect. 2006;9:307-20.
33. Naik AD, Kallen MA, Walder A, Street RL Jr. Improving hypertension control in diabetes mellitus: the effects of collaborative and proactive health communication. Circulation. 2008;117:1361-8.
34. Wilson SR, Strub P, Buist AS, et al.; Better Outcomes of Asthma Treatment (BOAT) Study Group. Shared treatment decision making improves adherence and outcomes in poorly controlled asthma. Am J Respir Crit Care Med 2010;181:566-77.
35. Ben-Zacharia A, Adamson M, Boyd A, et al. Impact of shared decision making on disease-modifying drug adherence in multiple sclerosis. Int J MS Care. 2018;20:287-97.
36. Shay LA, Lafata JE. Where is the evidence? A systematic review of shared decision making and patient outcomes. Med Decis Making. 2015;35:114-31.
37. Joseph-Williams N, Elwyn G, Edwards A. Knowledge is not power for patients: a systematic review and thematic synthesis of patient-reported barriers and facilitators to shared decision making. Patient Educ Couns. 2014;94:291-309.
38. Gravel K, Légaré F, Graham ID. Barriers and facilitators to implementing shared decision-making in clinical practice: a systematic review of health professionals’ perceptions. Implement Sci. 2006;1:16.
39. The Health Foundation. Helping people share decision making: A review of evidence considering whether shared decision making is worthwhile. London; 2012. Available from: https://www.health.org.uk/reports-and-analysis/reports/helping-people-share-decision-making [Last accessed on 27 October 2025].
40. The Ottawa Hospital Research Institute. Decision guides (mostly for any decision). Available from: https://decisionaid.ohri.ca/decguide.html [Last accessed on 27 October 2025].
41. Waldron T, Carr T, McMullen L, et al. Development of a program theory for shared decision-making: a realist synthesis. BMC Health Serv Res. 2020;20:59.
42. Brennan P, Parkes O. Case-finding in Fabry disease: experience from the North of England. J Inherit Metab Dis. 2014;37:103-7.
43. Office for National Statistics. Population estimates for the UK, England, Wales, Scotland and Northern Ireland: mid-2023. Available from: https://www.ons.gov.uk/peoplepopulationandcommunity/populationandmigration/populationestimates/bulletins/annualmidyearpopulationestimates/mid2023 [Last accessed on 27 October 2025].
