Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Retrospective Review of Condition Suspected IVA Results
3.2. Clinical Outcome Questionnaire
3.3. Evaluation of Precision Newborn Screening
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Carling, R.S.; Hedgethorne, K.; Chakrapani, A.; Hall, P.L.; Flynn, N.; Greenfield, T.; Moat, S.J.; Ssali, J.; Shakespeare, L.; Taj, N.; et al. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK. Int. J. Neonatal Screen. 2024, 10, 24. https://doi.org/10.3390/ijns10010024
Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, et al. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK. International Journal of Neonatal Screening. 2024; 10(1):24. https://doi.org/10.3390/ijns10010024
Chicago/Turabian StyleCarling, Rachel S., Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, and et al. 2024. "Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK" International Journal of Neonatal Screening 10, no. 1: 24. https://doi.org/10.3390/ijns10010024