Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Taro, YAMAZAKI"'
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Autor:
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
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis o
Externí odkaz:
https://doaj.org/article/155589ae842344c1bf48522b1d15cb79
Autor:
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
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/70a42ea93a774ef6885c77b549ac60e9
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10–20 mg/kg/day,
Externí odkaz:
https://doaj.org/article/273fd63d388c4faebe2bf3c3e3b82e79
Autor:
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutat
Externí odkaz:
https://doaj.org/article/158105bef6724bed92af4dd632668bf3
Autor:
Tomoko Tsuruoka, Atsuko Imai-Okazaki, Akira Ohtake, Makiko Tajika, Minako Ogawa-Tominaga, Masaru Shimura, Taro Yamazaki, Ayako Matsunaga, Yasushi Okazaki, Erika Ogawa, Yoshihito Kishita, Takuya Fushimi, Keiko Ichimoto, Ichiro Morioka, Kei Murayama, Tatsuo Fuchigami, Masakazu Kohda, Mika Ishige
Publikováno v:
Journal of Inherited Metabolic Disease
Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are scar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42667402b7f0e5fa724eac04733ed19b
https://doi.org/10.1002/jimd.12218
https://doi.org/10.1002/jimd.12218
Autor:
Megumi Saito-Tsuruoka, Nana Akiyama, Masaru Shimura, Yoshihito Kishita, Hiroko Harashima, Akira Ohtake, Yoshimasa Kamei, Takuya Fushimi, Shinji Kosugi, Ayako Matsunaga, Akira Namba, Tomoko Tsuruoka, Masakazu Kohda, Yukiko Yatsuka, Yasushi Okazaki, Keiko Ichimoto, Taro Yamazaki, Kei Murayama, Tomohiro Ebihara
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitocho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b16c1ae3bb09d85c0587167f792f933e
https://doi.org/10.1038/s41598-021-02108-2
https://doi.org/10.1038/s41598-021-02108-2
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Autor:
Masaru Shimura, Yoshihito Kishita, Tomoko Tsuruoka, Yoshimasa Kamei, Ayako Matsunaga, Akira Namba, Taro Yamazaki, Keiko Ichimoto, Hiroko Harashima, Yukiko Yatsuka, Kei Murayama, Masakazu Kohda, Takuya Fushimi, Megumi Saito-Tsuruoka, Akira Ohtake, Nana Akiyama, Tomohiro Ebihara, Shinji Kosugi, Yasushi Okazaki
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitocho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffd4f2e34a11b2593afce1154cb7717
https://doi.org/10.1038/s41598-021-81015-y
https://doi.org/10.1038/s41598-021-81015-y
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10–20 mg/kg/day,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfde1cdb984341eb61b84d88129cd11
http://www.sciencedirect.com/science/article/pii/S2214426919301181
http://www.sciencedirect.com/science/article/pii/S2214426919301181
Autor:
Masaru Shimura, Yoshihito Kishita, Ayako Matsunaga, Akira Ohtake, Taro Yamazaki, Erika Ogawa, Tatsuo Fuchigami, Makiko Tajika, Tomoko Tsuruoka, Takuya Fushimi, Masato Mori, Kei Murayama, Mika Ishige, Yasushi Okazaki, Shori Takahashi, Masakazu Kohda, Keiko Ichimoto
Publikováno v:
Journal of Inherited Metabolic Disease
Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9634e38a2539af090731acb3678214e1
http://europepmc.org/articles/PMC5579154
http://europepmc.org/articles/PMC5579154
Publikováno v:
史觀 = Shikan : the historical review. 174:98-119
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::ac948c30142cc27967463cad51891b85
http://hdl.handle.net/2065/00053544
http://hdl.handle.net/2065/00053544