Hasil Pencarian - Keiko Ichimoto

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  1. 1
    Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency

    Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency oleh Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama

    Diterbitkan 2020-09-01
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  2. 2
    Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

    Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome oleh Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara

    Diterbitkan 2022-09-01
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  3. 3
    Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

    Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report oleh Madoka Uesugi, Jun Mori, Shota Fukuhara, Noriko Fujii, Tadaki Omae, Hideo Sasai, Keiko Ichimoto, Kei Murayama, Toshio Osamura, Hajime Hosoi

    Diterbitkan 2020-12-01
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  4. 4
    A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

    A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia oleh Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama

    Diterbitkan 2022-02-01
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  5. 5
    Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

    Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology oleh Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama

    Diterbitkan 2020-09-01
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  6. 6
    Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

    Therapeutic effect of N-carbamylglutamate in CPS1 deficiency oleh Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Keitaro Isozaki, Tetsuro Matsuhashi, Makiko Tajika, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoki Ishida, Kayo Mizutani, Tomoko Tsuruoka, Kei Murayama

    Diterbitkan 2020-09-01
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  7. 7
    Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

    Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan oleh Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama

    Diterbitkan 2021-02-01
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  8. 8
    Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

    Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan oleh Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama

    Diterbitkan 2021-11-01
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  9. 9
    Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

    Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion oleh Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

    Diterbitkan 2022-12-01
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  10. 10
    Valine metabolites analysis in ECHS1 deficiency

    Valine metabolites analysis in ECHS1 deficiency oleh Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu

    Diterbitkan 2021-12-01
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  11. 11
    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation oleh Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

    Diterbitkan 2020-07-01
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