REFERENCES

1. Kenny T, Bogart K, Freedman A, et al. The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis. Rare Dis Orphan Drugs J 2022;1:7.

2. Greene W. Diagnosing rare diseases shouldn’t be so hard. Available from: https://lableaders.roche.com/global/en/articles/diagnosing-rare-diseases.html [Last accessed on 13 Aug 2024].

3. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020;28:165-73.

4. Rare Diseases International. Operational description of rare diseases. Available from: https://www.rarediseasesinternational.org/description-for-rd/ [Last accessed on 13 Aug 2024].

5. Therrell BL, Padilla CD, Borrajo GJC, et al. Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020-2023). Int J Neonatal Screen 2024;10:38.

6. Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171-87.

7. Therrell BL Jr, Padilla CD. Newborn screening in the developing countries. Curr Opin Pediatr 2018;30:734-9.

8. Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in europe revisited: an ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen 2021;7:15.

9. Ley 1980 de 2019. Available from: https://www.minsalud.gov.co/Normatividad_Nuevo/Forms/DispForm.aspx?ID=5699 [Last accessed on 15 Aug 2024]

10. Zois A. Expansion of cyprus national newborn screening programme. Available from: https://www.ipetitions.com/petition/expansion-of-cyprus-national-newborn-screening [Last accessed on 13 Aug 2024].

11. Association for inherited metabolic diseases "Aspida Zois", cyprus. Available from: https://www.aspidazois.com/en/%CE%BD%CE%B5%CE%B1-%CE%B1%CE%BD%CE%B1%CE%BA%CE%BF%CE%B9%CE%BD%CF%89%CF%83%CE%B5%CE%B9%CF%83/# [Last accessed on 13 Aug 2024].

12. Kountouris P, Kousiappa I, Papasavva T, et al. The molecular spectrum and distribution of haemoglobinopathies in cyprus: a 20-year retrospective study. Sci Rep 2016;6:26371.

13. Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet 2010;18:1077-83.

14. Skrinska V, Khneisser I, Schielen P, Loeber G. Introducing and expanding newborn screening in the MENA region. Int J Neonatal Screen 2020;6:12.

15. EUROPLAN. European project for rare diseases national plans development. Available from: http://www.europlanproject.eu/Events?idEventType=13 [Last accessed on 13 Aug 2024].

16. Department: statistics South Africa. General Household Survey 2022. Available from: https://www.statssa.gov.za/publications/P0318/P03182022.pdf [Last accessed on 15 Aug 2024].

17. Malherbe HL, Bonham J, Carrihill M, et al. Newborn screening in South Africa: the past, present, and plans for the future. Rare Dis Orphan Drugs J 2024;3:7.

18. Jain R. Rare diseases in Asia and the Pacific must be tackled too. 2020. Available from: https://www.asiapathways-adbi.org/2020/07/rare-diseases-asia-pacific-must-be-tackled-too/ [Last accessed on 13 Aug 2024].

19. Jain R, Wang CM, Foster L, Li EY, Nishimura Y, Tsang KP. Paradox of possibilities: the rare landscape in the Asia Pacific region. Rare Dis Orphan Drugs J 2024;3:8.

20. National Health Security Office. Tandem mass spectrometry newborn screening is available nationwide. 2023. Available from: http://eng.nhso.go.th/view/1/DescriptionNews/Tandem-mass-spectrometry-newborn-screening-is-available-nationwide/555/EN-US [Last accessed on 13 Aug 2024][.

21. Tajima T. Newborn screening in Japan-2021. Int J Neonatal Screen 2022;8:3.

22. Kapoor S, Gupta AK, Thelma BK. Charting the course: towards a comprehensive newborn screening program in India. Int J Neonatal Screen 2024;10:43.

23. Padilla CD, Therrell BL Jr, Alcausin MMLB, et al. Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry. Int J Neonatal Screen 2022;8:8.

24. Wilaiwongsathien K, Wattanasirichaigoon D, Rattanasiri S, Aonnuam C, Tangshewinsirikul C, Tim-Aroon T. Parental awareness, knowledge, and attitudes regarding current and future newborn bloodspot screening: the first report from Thailand. Int J Neonatal Screen 2023;9:25.

25. Padilla CD, Abadingo ME, Munda KV, Therrell BL. Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system. Rare Dis Orphan Drugs J 2023;2:27.

26. Millis N. View from inside: patient advocacy in guiding policy development for metabolic disorders. J Inherit Metab Dis 2022;45:866-71.

27. Taiwan Foundation for Rare Disorders. Summary of 2022 annual report. Available from: https://www.tfrd2.org.tw/tfrd_eng/index.php/tfrd3/annual_content/id/20 [Last accessed on 13 Aug 2024].

28. Chien YH, Hwu WL. The modern face of newborn screening. Pediatr Neonatol 2023;64 Suppl 1:S22-9.

29. Rare Voices Australia. Department of health and aged care publishes its ‘Newborn bloodspot screening expansion - readiness assessment executive summary’. 2024. Available from: https://rarevoices.org.au/department-of-health-and-aged-care-publishes-its-newborn-bloodspot-screening-expansion-readiness-assessment-executive-summary/ [Last accessed on 13 Aug 2024].

30. EURORDIS. Key principles for newborn screening. Available from: https://www.eurordis.org/publications/key-principles-for-newborn-screening/ [Last accessed on 13 Aug 2024].

31. EURORDIS. Major survey reveals rare disease community’s overwhelming support for screening at birth. 2024. Available from: https://www.eurordis.org/newborn-screening-survey/ [Last accessed on 13 Aug 2024].

32. Dangouloff T, Vrščaj E, Servais L, Osredkar D. SMA NBS World Study Group. Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go. Neuromuscul Disord 2021;31:574-82.

33. European Alliance for Newborn Screening in SMA. Spinal muscular atrophy: Screen at birth, save lives. 2021. Available from: https://nbs-alliance-assets.gpm.digital/Spinal_muscular_atrophy_Screen_at_birth_save_lives_Whitepaper_SMA_NBS_Alliance_v2_25_NOV_2021_aa4fca4159.pdf [Last accessed on 15 Aug 2024]

34. Yska HAF, Henneman L, Barendsen RW, Engelen M, Kemp S. Attitudes of patients with adrenoleukodystrophy towards sex-specific newborn screening. Int J Neonatal Screen 2023;9:51.

35. Giugliani R, Castillo Taucher S, Hafez S, et al. Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America. Front Genet 2022;13:1053559.

36. Laugwitz L, Schoenmakers DH, Adang LA, et al. Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol 2024;49:141-54.

37. Dawkins HJS, Draghia-Akli R, Lasko P, et al. International Rare Diseases Research Consortium (IRDiRC). Progress in rare diseases research 2010-2016: an IRDiRC perspective. Clin Transl Sci 2018;11:11-20.

38. van Lin N, Paliouras G, Vroom E, 't Hoen PAC, Roos M. How patient organizations can drive FAIR data efforts to facilitate research and health care: a report of the virtual second international meeting on duchenne data sharing, March 3, 2021. J Neuromuscul Dis 2021;8:1097-108.

39. Gallin EK, Bond E, Califf RM, et al. Forging stronger partnerships between academic health centers and patient-driven organizations. Acad Med 2013;88:1220-4.

40. Sikonja J, Groselj U, Scarpa M, et al. Towards achieving equity and innovation in newborn screening across Europe. Int J Neonatal Screen 2022;8:31.

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