Go Tajima - Search Results

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

1

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Tajima G, Hara K, Yuasa M. Tajima G, et al. 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

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.

3

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. 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.

4

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.

Nohara F, Tajima G, Sasai H, Makita Y. Nohara F, et al. Among authors: tajima g. Hum Genome Var. 2022 Jan 17;9(1):2. doi: 10.1038/s41439-021-00177-3. Hum Genome Var. 2022. PMID: 35034956 Free PMC article.

5

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: tajima g. Pediatr Res. 2022 Nov;92(5):1391-1399. doi: 10.1038/s41390-022-01979-z. Epub 2022 Feb 8. Pediatr Res. 2022. PMID: 35136200

6

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.

7

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

8

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.

Konomura K, Hoshino E, Sakai K, Fukuda T, Tajima G. Konomura K, et al. Among authors: tajima g. Int J Neonatal Screen. 2023 Jul 14;9(3):39. doi: 10.3390/ijns9030039. Int J Neonatal Screen. 2023. PMID: 37489492 Free PMC article.

9

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

10

A classic variant of Fabry disease in a family with the M296I late-onset variant.

Hirashio S, Kagawa R, Tajima G, Masaki T. Hirashio S, et al. Among authors: tajima g. CEN Case Rep. 2021 Feb;10(1):106-110. doi: 10.1007/s13730-020-00527-0. Epub 2020 Sep 9. CEN Case Rep. 2021. PMID: 32902816 Free PMC article.

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