Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Journal of human genetics (01.08.2019)
Published in Journal of human genetics (01.08.2019)
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Estimation of the hemoglobin glycation rate constant
Kameyama, Masashi, Okumiya, Toshika, Tokuhiro, Shinji, Matsumura, Yoshihisa, Matsui, Hirotaka, Ono, Yasuhiro, Iwasaka, Tsuyoshi, Hiratani, Kazuyuki, Koga, Masafumi
Published in Scientific reports (13.01.2021)
Published in Scientific reports (13.01.2021)
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An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics
Odaka, Haruki, Numakawa, Tadahiro, Soga, Minami, Kido, Jun, Matsumoto, Shiro, Kajihara, Ryutaro, Okumiya, Toshika, Tani, Naoki, Tanoue, Yuki, Fukuda, Takaichi, Furuya, Hirokazu, Inoue, Takafumi, Era, Takumi
Published in Neurobiology of disease (01.05.2021)
Published in Neurobiology of disease (01.05.2021)
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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease
Bergsma, Atze J, In 't Groen, Stijn L M, Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T, Pijnappel, W W M Pim
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Shortened red blood cell age in patients with end-stage renal disease who were receiving haemodialysis: a cross-sectional study
Matsumura, Koichiro, Okumiya, Toshika, Sugiura, Tetsuro, Takahashi, Nobuyuki, Yamamoto, Yoshihiro, Kikuchi, Sanae, Fujii, Kenichi, Otagaki, Munemitsu, Shiojima, Ichiro
Published in BMC nephrology (29.09.2020)
Published in BMC nephrology (29.09.2020)
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Evaluation of recombinant human erythropoietin responsiveness by measuring erythrocyte creatine content in haemodialysis patients
Hasegawa, Shun, Nakamura, Seishi, Sugiura, Tetsuro, Tsuka, Yoshiaki, Takahashi, Nobuyuki, Matsumura, Koichiro, Okumiya, Toshika, Baden, Masato, Shiojima, Ichiro
Published in BMC nephrology (12.12.2021)
Published in BMC nephrology (12.12.2021)
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Diagnostic accuracy and clinical usefulness of erythrocyte creatine content to predict the improvement of anaemia in patients receiving maintenance haemodialysis
Hayashi, Ohki, Nakamura, Seishi, Sugiura, Tetsuro, Hasegawa, Shun, Tsuka, Yoshiaki, Takahashi, Nobuyuki, Kikuchi, Sanae, Matsumura, Koichiro, Okumiya, Toshika, Baden, Masato, Shiojima, Ichiro
Published in BMC nephrology (03.01.2023)
Published in BMC nephrology (03.01.2023)
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HbA1c levels measured by enzymatic assay during off-site health checkups are lower than those measured by on-site HPLC assay
Koga, Masafumi, Okuda, Mari, Inada, Shinya, Ueda, Shin-ichiro, Nakamura, Yuko, Okumiya, Toshika, Ishibashi, Midori
Published in Diabetology international (01.01.2020)
Published in Diabetology international (01.01.2020)
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Erythrocyte creatine as a marker of intravascular hemolysis due to left ventricular outflow tract obstruction in hypertrophic cardiomyopathy
Kubo, Toru, MD, PhD, FJCC, Okumiya, Toshika, PhD, Baba, Yuichi, MD, PhD, Hirota, Takayoshi, MD, PhD, Tanioka, Katsutoshi, MD, Yamasaki, Naohito, MD, PhD, Sugiura, Tetsuro, MD, PhD, FJCC, Doi, Yoshinori L., MD, PhD, FJCC, Kitaoka, Hiroaki, MD, PhD, FJCC
Published in Journal of cardiology (01.03.2016)
Published in Journal of cardiology (01.03.2016)
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Newborn screening for Pompe disease in Japan
Oda, Eri, Tanaka, Toju, Migita, Ohsuke, Kosuga, Motomichi, Fukushi, Masaru, Okumiya, Toshika, Osawa, Makiko, Okuyama, Torayuki
Published in Molecular genetics and metabolism (01.12.2011)
Published in Molecular genetics and metabolism (01.12.2011)
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Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
Tajima, Youichi, Matsuzawa, Fumiko, Aikawa, Sei-Ichi, Okumiya, Toshika, Yoshimizu, Michiru, Tsukimura, Takahiro, Ikekita, Masahiko, Tsujino, Seiichi, Tsuji, Akihiko, Edmunds, Tim, Sakuraba, Hitoshi
Published in Journal of human genetics (01.11.2007)
Published in Journal of human genetics (01.11.2007)
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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes
Okumiya, Toshika, Keulemans, Joke L.M., Kroos, Marian A., Van der Beek, Nadine M.E., Boer, Marijke A., Takeuchi, Hiroaki, Van Diggelen, Otto P., Reuser, Arnold J.J.
Published in Molecular genetics and metabolism (01.05.2006)
Published in Molecular genetics and metabolism (01.05.2006)
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The mechanical binding strengths of Helicobacter pylori BabA and SabA adhesins using an adhesion binding assay-ELISA, and its clinical relevance in Japan
Nishioka, Mitsuaki, Takeuchi, Hiroaki, Con, Sergio A, Uehara, Yoshio, Nishimori, Isao, Okumiya, Toshika, Kumon, Yoshitaka, Sugiura, Tetsuro
Published in Microbiology and immunology (01.08.2010)
Published in Microbiology and immunology (01.08.2010)
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