Hasil Pencarian - Akira Ohtake

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  1. 1
    First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

    First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child oleh Hiromi Nyuzuki, Taro Yamazaki, Megumi Saito, Akira Ohtake

    Diterbitkan 2019-12-01
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  2. 2
    Decidualized Endometrial Stromal Cells Promote Mitochondrial Beta-Oxidation to Produce the Octanoic Acid Required for Implantation

    Decidualized Endometrial Stromal Cells Promote Mitochondrial Beta-Oxidation to Produce the Octanoic Acid Required for Implantation oleh Yumi Mizuno, Shunsuke Tamaru, Hideno Tochigi, Tomomi Sato, Miyuko Kishi, Akira Ohtake, Osamu Ishihara, Takeshi Kajihara

    Diterbitkan 2024-08-01
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  3. 3
    Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

    Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II oleh Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima

    Diterbitkan 2023-12-01
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  4. 4
    A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report

    A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report oleh Kazumichi Ota, Yoshihiko Nakazato, Ryu Yokoyama, Hitoshi Kawasaki, Naotoshi Tamura, Akira Ohtake, Megumi Saito-Tsuruoka, Toshimasa Yamamoto

    Diterbitkan 2021-12-01
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  5. 5
    Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

    Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening oleh Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura

    Diterbitkan 2020-11-01
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  6. 6
    Successful recovery from severe hypertension in a patient with Leigh syndrome

    Successful recovery from severe hypertension in a patient with Leigh syndrome oleh Yuto Arai, Kiyotaka Kosugiyama, Takuya Tamura, Sasagu Matsumoto, Akira Sudo, Hideaki Shiraishi, Cammack Ivor, Akira Ohtake, Kiyoshi Nagumo

    Diterbitkan 2020-12-01
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  7. 7
    Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

    Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation oleh Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh‐ichiro Yoshiura, Hirofumi Ohashi

    Diterbitkan 2020-03-01
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  8. 8
    A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

    A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome oleh Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

    Diterbitkan 2021-05-01
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  9. 9
    A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

    A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome oleh Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

    Diterbitkan 2020-10-01
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  10. 10
    Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening

    Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening oleh Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima

    Diterbitkan 2020-09-01
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  11. 11
    A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

    A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome oleh Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-ichi Goto, Noriko Aida, Hitoshi Osaka

    Diterbitkan 2014-01-01
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  12. 12
    Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

    Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction i... oleh Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama

    Diterbitkan 2019-03-01
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  13. 13
    Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

    Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family oleh Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake

    Diterbitkan 2023-06-01
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  14. 14
    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

    Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors oleh Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, Eriko F. Jimbo, Mizuki Kobayashi, Natsumi Ohishi, Atsuko Nagayoshi, Shiho Aoki, Yoshihito Kishita, Akira Ohtake, Nobuhiko Ohno, Masafumi Takahashi, Takanori Yamagata, Hitoshi Osaka

    Diterbitkan 2024-02-01
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  15. 15
    Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

    Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet oleh Yurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, Hirotomo Saitsu, Yu Katata, Yoshitsugu Oikawa, Naoya Saijyo, Takehiko Inui, Kei Murayama, Akira Ohtake, Hitoshi Osaka, Jun-ichi Takanashi, Shigeo Kure, Ken Inoue

    Diterbitkan 2021-12-01
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  16. 16
    Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease

    Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease oleh Chika Watanabe, Hitoshi Osaka, Miyuki Watanabe, Akihiko Miyauchi, Eriko F. Jimbo, Takeshi Tokuyama, Hideki Uosaki, Yoshihito Kishita, Yasushi Okazaki, Takanori Onuki, Tomohiro Ebihara, Kenichi Aizawa, Kei Murayama, Akira Ohtake, Takanori Yamagata

    Diterbitkan 2023-03-01
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  17. 17
    Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder

    Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder oleh Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tetsuro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor-anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Diterbitkan 2023-12-01
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  18. 18
    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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  19. 19
    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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  20. 20
    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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