Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase by Kohei Sunoki, Miyuki Watanabe, Shiho Aoki, Eriko Jimbo, Hiroko Shimbo, Tomohide Goto, Hitoshi Osaka

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Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts by Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki

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B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency by Sanami Takada, MD, PhD, Tsubasa Okano, MD, PhD, Kay Tanita, MD, PhD, Kaima Tsukada, PhD, Masato Watanabe, MD, Atsushi Hijikata, PhD, Takuya Naruto, PhD, Tzu-Wen Yeh, PhD, Saki Kasuga, MD, PhD, Sadao Tokimasa, MD, PhD, Mariko Taniguchi-Ikeda, MD, PhD, Reina Ogata, MD, Azusa Ikeda, MD, PhD, Tomohide Goto, MD, PhD, Hitoshi Osaka, MD, PhD, Masatoshi Takagi, MD, PhD, Kohsuke Imai, MD, PhD, Tomohiro Morio, MD, PhD, Mirjam van der Burg, PhD, Mikio Shimada, PhD, Hirokazu Kanegane, MD, PhD

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