Miori Yuasa - Search Results

Year	Number of Results
2013	1
2018	2
2019	2
2021	3
2022	2
2023	2
2024	1
2026	2

1

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Tajima G, Hara K, Yuasa M. Tajima G, et al. Among authors: yuasa m. J Hum Genet. 2019 Feb;64(2):87-98. doi: 10.1038/s10038-018-0530-z. Epub 2018 Dec 4. J Hum Genet. 2019. PMID: 30514913 Review.

2

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Tajima G, Kagawa R, Sakura F, Nakamura-Utsunomiya A, Hara K, Yuasa M, Hasegawa Y, Sasai H, Okada S. Tajima G, et al. Among authors: yuasa m. Int J Neonatal Screen. 2021 Jun 28;7(3):35. doi: 10.3390/ijns7030035. Int J Neonatal Screen. 2021. PMID: 34203287 Free PMC article. Review.

3

A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1.

Mori J, Furukawa T, Kodo K, Nakajima H, Yuasa M, Kubota M, Shigematsu Y. Mori J, et al. Among authors: yuasa m. Pediatr Int. 2023 Jan-Dec;65(1):e15644. doi: 10.1111/ped.15644. Pediatr Int. 2023. PMID: 37795850 No abstract available.

4

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via ¹³C-fatty acid loading test.

Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y. Sugihara K, et al. Among authors: yuasa m. Pediatr Res. 2022 Nov;92(5):1391-1399. doi: 10.1038/s41390-022-01979-z. Epub 2022 Feb 8. Pediatr Res. 2022. PMID: 35136200

5

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

Osawa Y, Kobayashi H, Tajima G, Hara K, Yamada K, Fukuda S, Hasegawa Y, Aisaki J, Yuasa M, Hata I, Okada S, Shigematsu Y, Sasai H, Fukao T, Takizawa T, Yamaguchi S, Taketani T. Osawa Y, et al. Among authors: yuasa m. 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

6

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Tajima G, Hara K, Tsumura M, Kagawa R, Sakura F, Sasai H, Yuasa M, Shigematsu Y, Okada S. Tajima G, et al. Among authors: yuasa m. Int J Neonatal Screen. 2023 Oct 27;9(4):62. doi: 10.3390/ijns9040062. Int J Neonatal Screen. 2023. PMID: 37987475 Free PMC article.

7

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.

Shigematsu Y, Yuasa M, Ishige N, Nakajima H, Tajima G. Shigematsu Y, et al. Among authors: yuasa m. Int J Neonatal Screen. 2021 Jul 14;7(3):44. doi: 10.3390/ijns7030044. Int J Neonatal Screen. 2021. PMID: 34287228 Free PMC article.

8

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: yuasa m. Int J Neonatal Screen. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015. Int J Neonatal Screen. 2024. PMID: 38390979 Free PMC article.

9

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Kagawa R, Tajima G, Maeda T, Sakura F, Nakamura-Utsunomiya A, Hara K, Nishimura Y, Yuasa M, Shigematsu Y, Tanaka H, Fujihara S, Yoshii C, Okada S. Kagawa R, et al. Among authors: yuasa m. Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039. Int J Neonatal Screen. 2021. PMID: 34287232 Free PMC article.

10

Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.

Yuasa M, Hata I, Sugihara K, Isozaki Y, Ohshima Y, Hara K, Tajima G, Shigematsu Y. Yuasa M, et al. Dis Markers. 2019 Feb 7;2019:2984747. doi: 10.1155/2019/2984747. eCollection 2019. Dis Markers. 2019. PMID: 30881520 Free PMC article.

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