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Table representation of search results timeline featuring number of search results per year.

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.
Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia.
Daijo K, Kawaoka T, Nakahara T, Nagaoki Y, Tsuge M, Hiramatsu A, Imamura M, Kawakami Y, Aikata H, Hara K, Tajima G, Kobayashi M, Chayama K. Daijo K, et al. Among authors: tajima g. Clin J Gastroenterol. 2017 Aug;10(4):383-387. doi: 10.1007/s12328-017-0753-0. Epub 2017 Jun 9. Clin J Gastroenterol. 2017. PMID: 28597413
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Shirao K, et al. Among authors: tajima g. Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Hum Genet. 2010. PMID: 20376488 Review.
Surgical intervention for patent ductus venosus.
Kamimatsuse A, Onitake Y, Kamei N, Tajima G, Sakura N, Sueda T, Hiyama E. Kamimatsuse A, et al. Among authors: tajima g. Pediatr Surg Int. 2010 Oct;26(10):1025-30. doi: 10.1007/s00383-010-2662-x. Pediatr Surg Int. 2010. PMID: 20661579
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. doi: 10.1016/j.jchromb.2005.06.043. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16046200 Review.
46 results