Page 34 - Read Online

Ji et al. Rare Dis Orphan Drugs J 2023;2:26 https://dx.doi.org/10.20517/rdodj.2023.30 Page 17 of 19

22. Andermann A, Blancquaert I, Déry V. Genetic screening: a conceptual framework for programmes and policy-making. J Health Serv
Res Policy 2010;15:90-7. DOI PubMed
23. Arah OA, Klazinga NS, Delnoij DM, ten Asbroek AH, Custers T. Conceptual frameworks for health systems performance: a quest
for effectiveness, quality, and improvement. Int J Qual Health Care 2003;15:377-98. DOI PubMed
24. Australian Institute of Health and Welfare. Health expenditure Australia 2020-21. Available from: https://www.aihw.gov.au/reports/
health-welfare-expenditure/health-expenditure-australia-2020-21/contents/spending-trends-by-sources [Last accessed on 21 Nov
2023].
25. Cao M, Notini L, Ayres S, Vears DF. Australian healthcare professionals' perspectives on the ethical and practical issues associated
with genomic newborn screening. J Genet Couns 2023;32:376-86. DOI PubMed
26. Metz MP, Ranieri E, Gerace RL, Priest KR, Luke CG, Chan A. Newborn screening in South Australia: is it universal? Med J Aust
2003;179:412-5. DOI PubMed
27. Nolan-Isles D, Macniven R, Hunter K, et al. Enablers and barriers to accessing healthcare services for aboriginal people in New
South Wales, Australia. Int J Environ Res Public Health 2021;18:3014. DOI PubMed PMC
28. D'Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA; NSW SMA NBS Study Group. Integrating newborn screening for
spinal muscular atrophy into health care systems: an Australian pilot programme. Dev Med Child Neurol 2022;64:625-32. DOI
PubMed PMC
29. Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171-87.
DOI
30. Department of Health and Aged Care. Expansion of newborn bloodspot screening. Available from: https://www.health.gov.au/our-
work/newborn-bloodspot-screening/expansion [Last accessed on 21 Nov 2023].
31. Commonwealth of Australia. The new frontier - delivering better health for all Australians. Available from: https://www.aph.gov.au/
Parliamentary_Business/Committees/House/Health_Aged_Care_and_Sport/Newdrugs/Report [Last accessed on 21 Nov 2023].
32. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
N Engl J Med 2003;348:2304-12. DOI PubMed
33. Hall PL, Marquardt G, Mchugh DM, et al. Postanalytical tools improve performance of newborn screening by tandem mass
spectrometry. Genet Med 2014;16:889-95. DOI PubMed PMC
34. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Rodney Howell R. Newborn screening: toward a uniform screening panel
and system. Genet Med 2006;8 Suppl 1:1S-252S. PubMed
35. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of
metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111:1399-406.
DOI PubMed
36. Forny P, Hörster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic
acidaemia: first revision. J Inherit Metab Dis 2021;44:566-92. DOI PubMed PMC
37. Hertzog A, Selvanathan A, Pandithan D, et al. 3-Methylglutaconyl-CoA hydratase deficiency: when ascertainment bias confounds a
biochemical diagnosis. JIMD Rep 2022;63:568-74. DOI PubMed PMC
38. Thompson S, Hertzog A, Selvanathan A, et al. Treatment of HMG-CoA lyase deficiency-longitudinal data on clinical and nutritional
management of 10 australian cases. Nutrients 2023;15:531. DOI PubMed PMC
39. Rüfenacht V, Häberle J. Mini-review: challenges in newborn screening for urea cycle disorders. Int J Neonatal Screen 2015;1:27-35.
DOI
40. California Department of Public Health. NEwborn screening program: disorders detectable by newborn screening. Available from:
https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/nbs/NBS-Disorders-Detectable.aspx [Last accessed on 21 Nov 2023].
41. Ryder B, Inbar-Feigenberg M, Glamuzina E, et al. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases:
management challenges and potential therapeutic approaches. J Inherit Metab Dis 2021;44:903-15. DOI
42. Health Resources & Services Administration. Previously nominated conditions. Available from: https://www.hrsa.gov/advisory-
committees/heritable-disorders/rusp/previous-nominations [Last accessed on 21 Nov 2023].
43. Department of Health and Aged Care. What is screened in the program. Available from: https://www.health.gov.au/our-work/
newborn-bloodspot-screening/what-is-screened [Last accessed on 21 Nov 2023].
44. Department of Health and Aged Care. Delivering newborn bloodspot screening programs. Available from: https://www.health.gov.
au/our-work/newborn-bloodspot-screening/delivering-programs [Last accessed on 21 Nov 2023].
45. Farrar MA, Kiernan MC. Spinal muscular atrophy - the dawning of a new era. Nat Rev Neurol 2020;16:593-4. DOI PubMed
46. McPherson E. Postcode lottery: The screening test saving babies in some states but not others. Available from: https://www.9news.
com.au/national/newborn-screening-australia-postcode-lottery-calls-for-heel-prick-test-to-be-expanded/39cad501-9109-4855-8c59-
e30c700903a1 [Last accessed on 21 Nov 2023].
47. Newborn screening: a blueprint for the future executive summary: newborn screening task force report. Pediatrics 2000;106:386-8.
PubMed
48. Bhattacharya K, Millis N, Jaffe A, Zurynski Y. Rare diseases research and policy in Australia: On the journey to equitable care. J
Paediatrics Child Health 2021;57:778-81. DOI
49. Australian Government Department of Health and Aged Care. National strategic action plan for rare diseases. Available from: https://
www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases [Last accessed on 21 Nov 2023].