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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype by Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani
Published 2022-12-01
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A Simple Flow Injection Analysis–Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions by Takanari Hattori, Yoshitomo Notsu, Misa Tanaka, Miki Matsui, Tetsuo Iida, Jun Watanabe, Yoshimitsu Osawa, Seiji Yamaguchi, Shozo Yano, Takeshi Taketani, Hironori Kobayashi
Published 2022-05-01
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