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junko aizaki[Author]
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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Mol Genet Metab. 2022 May;136(1):74-79. doi: 10.1016/j.ymgme.2022.03.009. Epub 2022 Mar 25.
Mol Genet Metab. 2022.
PMID: 35400565
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G, Aisaki J, Hara K, Tsumura M, Kagawa R, Sakura F, Sasai H, Yuasa M, Shigematsu Y, Okada S.
Tajima G, et al. Among authors: aisaki j.
Int J Neonatal Screen. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015.
Int J Neonatal Screen. 2024.
PMID: 38390979
Free PMC article.
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