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BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. Among authors: koga y. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M. Komaki H, et al. Among authors: koga y. Biochim Biophys Acta. 2010 Mar;1800(3):313-5. doi: 10.1016/j.bbagen.2009.07.008. Epub 2009 Jul 17. Biochim Biophys Acta. 2010. PMID: 19616603
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
Kadoya T, Sakakibara A, Kitayama K, Yamada Y, Higuchi S, Kawakita R, Kawasaki Y, Fujino M, Murakami Y, Shimura M, Murayama K, Ohtake A, Okazaki Y, Koga Y, Yorifuji T. Kadoya T, et al. Among authors: koga y. J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1181-1185. doi: 10.1515/jpem-2019-0205. J Pediatr Endocrinol Metab. 2019. PMID: 31473688
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection.
Koga Y, Povalko N, Inoue E, Ishii A, Fujii K, Fujii T, Murayama K, Mogami Y, Hata I, Ikawa M, Fukami K, Fukumoto Y, Nomura M, Ichikawa K, Yoshida K. Koga Y, et al. J Inherit Metab Dis. 2021 Mar;44(2):358-366. doi: 10.1002/jimd.12317. Epub 2020 Oct 4. J Inherit Metab Dis. 2021. PMID: 32965044 Free PMC article.
1,827 results