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Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: sakamoto o. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: sakamoto o. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621
First Japanese case of Zellweger syndrome with a mutation in PEX14.
Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T. Komatsuzaki S, et al. Among authors: sakamoto o. Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2. Pediatr Int. 2015. PMID: 26627464
Neonatal presentation of adult-onset type II citrullinemia.
Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T. Ohura T, et al. Among authors: sakamoto o. Hum Genet. 2001 Feb;108(2):87-90. doi: 10.1007/s004390000448. Hum Genet. 2001. PMID: 11281457
[Fructose-1,6-bisphosphatase deficiency].
Sakamoto O, Ohura T. Sakamoto O, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):726-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462656 Review. Japanese. No abstract available.
133 results