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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. Kohda M, et al. Among authors: ohtake a. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26741492 Free PMC article.
[Carbamyl phosphate synthetase I deficiency].
Ohtake A, Mori M. Ohtake A, et al. Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):497-9. Tanpakushitsu Kakusan Koso. 1988. PMID: 3270854 Japanese. No abstract available.
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: ohtake a. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594
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: ohtake a. 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
276 results