Keiichi Hara - Search Results

Year	Number of Results
2002	2
2003	1
2005	1
2006	1
2007	1
2008	2
2009	1
2010	2
2013	2
2015	1
2016	4
2017	6
2018	1
2019	2
2021	4
2022	2
2023	2
2024	1

1

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Tajima G, Hara K, Yuasa M. Tajima G, et al. Among authors: hara k. 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: hara k. 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

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: hara k. 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.

4

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: hara k. 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

5

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

Ikeda N, Maruyama S, Nakano K, Imakiire R, Ninomiya Y, Seki S, Yanagimoto K, Kakihana Y, Hara K, Tajima G, Okamoto Y, Kawano Y. Ikeda N, et al. Among authors: hara k. Mol Genet Metab Rep. 2017 May 9;11:69-71. doi: 10.1016/j.ymgmr.2017.04.010. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28529889 Free PMC article.

6

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: hara k. 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

7

Health outcomes of the G7 Hiroshima Summit: breaking the cycle of panic and neglect and achieving UHC.

Ezoe S, Hashimoto J, Nishida Y, Namikawa H, Yoneda M, Ichino S, Tanaka S, Ohmori T, Oya M, Hatano N, Hinoshita E, Hara K, Ito N, Akahori T. Ezoe S, et al. Among authors: hara k. Lancet. 2023 Jun 24;401(10394):2091-2093. doi: 10.1016/S0140-6736(23)01230-8. Epub 2023 Jun 15. Lancet. 2023. PMID: 37331365 No abstract available.

8

A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.

Ishikawa R, Sugimoto T, Abe T, Ohno N, Tazuma T, Giga M, Naito H, Kono T, Nomura E, Hara K, Yorifuji T, Yamawaki T. Ishikawa R, et al. Among authors: hara k. Intern Med. 2022 May 1;61(9):1387-1392. doi: 10.2169/internalmedicine.7961-21. Epub 2021 Oct 19. Intern Med. 2022. PMID: 34670888 Free PMC article.

9

Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ.

Hiyama TY, Utsunomiya AN, Matsumoto M, Fujikawa A, Lin CH, Hara K, Kagawa R, Okada S, Kobayashi M, Ishikawa M, Anzo M, Cho H, Takayasu S, Nigawara T, Daimon M, Sato T, Terui K, Ito E, Noda M. Hiyama TY, et al. Among authors: hara k. Brain Pathol. 2017 May;27(3):323-331. doi: 10.1111/bpa.12409. Epub 2016 Aug 2. Brain Pathol. 2017. PMID: 27338632 Free PMC article.

10

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Suzuki Y, Ito S, Otani Y, Nishikawa A, Eto K, Hara K, Oguni H, Nagata S. Suzuki Y, et al. Among authors: hara k. Brain Dev. 2021 May;43(5):657-660. doi: 10.1016/j.braindev.2021.01.001. Epub 2021 Feb 3. Brain Dev. 2021. PMID: 33549404

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