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Year Number of Results
2005 3
2008 2
2009 4
2010 5
2011 3
2012 2
2013 4
2014 2
2015 4
2016 2
2017 5
2018 1
2019 2
2020 3
2021 4
2022 4
2023 5
2024 1

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46 results

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Page 1
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
Ito K, Tajima G, Kamisato C, Tsumura M, Iwamoto M, Sekiguchi Y, Numata Y, Watanabe K, Yabe Y, Kanki S, Fujieda Y, Goto K, Sogawa Y, Oitate M, Nagase H, Tsuji S, Nishizawa T, Kakuta M, Masuda T, Onishi Y, Koizumi M, Nakamura H, Okada S, Matsuo M, Takaishi K. Ito K, et al. Among authors: tajima g. J Clin Invest. 2023 Dec 1;133(23):e163464. doi: 10.1172/JCI163464. J Clin Invest. 2023. PMID: 37788110 Free PMC article.
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: tajima g. 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
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: tajima g. Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039. Int J Neonatal Screen. 2021. PMID: 34287232 Free PMC article.
46 results