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Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: osaka h. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: osaka h. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166
Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.
Koshu K, Muramatsu K, Maru T, Kurokawa Y, Mizobe Y, Yamagishi H, Matsubara D, Yokoyama K, Jimbo E, Kumagai H, Sanada Y, Sakuma Y, Fukushima N, Narita A, Yamagata T, Osaka H. Koshu K, et al. Among authors: osaka h. Brain Dev. 2023 Oct;45(9):517-522. doi: 10.1016/j.braindev.2023.06.006. Epub 2023 Jul 8. Brain Dev. 2023. PMID: 37429811
Impact of the omicron phase on a highly advanced medical facility in Japan.
Yamagishi H, Tamura D, Aoyagi J, Suzuki S, Mizobe Y, Wakae K, Yamagata T, Tajima T, Osaka H. Yamagishi H, et al. Among authors: osaka h. Front Pediatr. 2023 Jul 11;11:1201825. doi: 10.3389/fped.2023.1201825. eCollection 2023. Front Pediatr. 2023. PMID: 37497300 Free PMC article.
351 results