P013: Advances in multi-omics diagnostics studies of mitochondrial diseases in Japan by Yasushi Okazaki, Kei Murayama, Atsuko Okazaki

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P204: Impact of measuring mitochondrial DNA heteroplasmy rates using different tissues in 103 patients with mitochondrial disease by Atsuko Okazaki, Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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WCN24-865 MEASUREMENT OF MITOCHONDRIAL RESPIRATORY CHAIN ACTIVITY USING CULTURED TUBULAR CELLS FROM URINE AS A NEW DIAGNOSTIC METHOD FOR MITOCHONDRIAL NEPHROPATHY by Toshiyuki Imasawa, Eri Gomi, Yuto Horii, Yuko Aida, Mari Ohiwa, Masaru Shimura, Kei Murayama

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Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation by Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, Takuma Tsuzuki-Wada, Megumi Saito-Tsuruoka, Takuya Fushimi, Kei Murayama, Yuji Akiyama, Toshihide Mimura

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Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature by Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira

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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

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Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy by Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka, Hiromi Nyuzuki, Motomichi Kosuga, Ohsuke Migita, Tetsuya Ito, Hideo Sasai, Ryosuke Bo, Junpei Hamada, Takashi Hamazaki, Norio Sakai, Takahito Inoue, Kimitoshi Nakamura, Torayuki Okuyama, Kei Murayama

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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy by Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, Michihira Tagami, Moe Fukunaga, Hiroko Kinoshita, Tomoko Hirata, Wataru Suda, Yasuhiro Murakawa, Piero Carninci, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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