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Malherbe et al. Rare Dis Orphan Drugs J 2024;3:24 https://dx.doi.org/10.20517/rdodj.2024.11 Page 7 of 8

DECLARATIONS
Authors’ contributions
Made contributions to the conception and design of the study and performed analysis and interpretation:
Malherbe HL, Jain R, Antoniadou V, Ouillade MC, Gil Cardozo DF, Gumus G, Kitikiti NS, McKay L,
Wang CM
All authors contributed to the review and editing of the manuscript.

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
Kitikiti NS is a full-time employee of Takeda Pharmaceuticals International AG. All other authors declared
that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2024.

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. DOI
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. DOI PubMed PMC
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. DOI PubMed PMC
6. Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171-87.
PubMed
7. Therrell BL Jr, Padilla CD. Newborn screening in the developing countries. Curr Opin Pediatr 2018;30:734-9. DOI PubMed
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. DOI
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. DOI PubMed PMC
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. DOI PubMed PMC