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2,446 results
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Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. Among authors: hori t. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N. Hori T, et al. Tohoku J Exp Med. 2010 Jul;221(3):191-5. doi: 10.1620/tjem.221.191. Tohoku J Exp Med. 2010. PMID: 20543534
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO, Kondo N. Hori T, et al. Hum Mutat. 2013 Mar;34(3):473-80. doi: 10.1002/humu.22258. Epub 2013 Jan 22. Hum Mutat. 2013. PMID: 23281106
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N. Fukao T, et al. Among authors: hori t. Mol Genet Metab. 2013 Sep-Oct;110(1-2):184-7. doi: 10.1016/j.ymgme.2013.07.004. Epub 2013 Jul 14. Mol Genet Metab. 2013. PMID: 23920042
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y. Fukao T, et al. Among authors: hori t. J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18. J Hum Genet. 2014. PMID: 25231369
Inborn errors of ketone body utilization.
Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T. Hori T, et al. Pediatr Int. 2015;57(1):41-8. doi: 10.1111/ped.12585. Pediatr Int. 2015. PMID: 25559898 Review.
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.
Kadowaki T, Ohnishi H, Kawamoto N, Kadowaki S, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Hiejima E, Izawa K, Matsubayashi T, Matsumoto K, Imai K, Nishikomori R, Ito S, Kanegane H, Fukao T. Kadowaki T, et al. Among authors: hori t. Clin Immunol. 2020 Jul;216:108441. doi: 10.1016/j.clim.2020.108441. Epub 2020 Apr 23. Clin Immunol. 2020. PMID: 32335289
Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia.
Kubota K, Ozeki M, Hori T, Kanda K, Funato M, Asano T, Fukao T, Kondo N. Kubota K, et al. Among authors: hori t. Pediatr Int. 2014 Aug;56(4):e37-40. doi: 10.1111/ped.12384. Pediatr Int. 2014. PMID: 25252069
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H. Kadowaki T, et al. Among authors: hori t. J Allergy Clin Immunol. 2018 Apr;141(4):1485-1488.e11. doi: 10.1016/j.jaci.2017.10.039. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241730 No abstract available.
Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis.
Funato M, Fukao T, Sasai H, Hori T, Terazawa D, Kubota K, Ozeki M, Orii K, Kaneko H, Kondo N. Funato M, et al. Among authors: hori t. Pediatr Int. 2011 Oct;53(5):771-773. doi: 10.1111/j.1442-200X.2010.03308.x. Pediatr Int. 2011. PMID: 21955013 No abstract available.
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