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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
Published 2024-04-01Get full text
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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
Published 2025-07-01Get full text
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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
Published 2024-10-01Get full text
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