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

Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true positive (TP) and 84 FP cases, with pivalate i...

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出版年:	International Journal of Neonatal Screening
主要な著者:	Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2024-03-01
主題:	isovaleric acidemia false positive newborn screening inherited metabolic disease
オンライン･アクセス:	https://www.mdpi.com/2409-515X/10/1/24