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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: orii k. 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.
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Fukao T, et al. Among authors: orii ke. Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. Genomics. 2000. PMID: 10964512
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
Watanabe H, Orii KE, Fukao T, Song XQ, Aoyama T, IJlst L, Ruiter J, Wanders RJ, Kondo N. Watanabe H, et al. Among authors: orii ke. Hum Mutat. 2000;15(5):430-8. doi: 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1. Hum Mutat. 2000. PMID: 10790204
Neonatal dysphonia caused by subglottic infantile hemangioma.
Matsuzawa-Kinomura Y, Ozeki M, Otsuka H, Orii K, Fukao T. Matsuzawa-Kinomura Y, et al. Among authors: orii k. Pediatr Int. 2017 Aug;59(8):935-936. doi: 10.1111/ped.13308. Epub 2017 Jun 28. Pediatr Int. 2017. PMID: 28660690 No abstract available.
169 results