Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia

by Rie Chida-Naomiya, Masaru Shimura, Ryuhei Nagao, Atsushi Kumada, Hisashi Kawashima
Published 2020-09-01

Antiepileptic drug-induced psychosis associated with MTHFR C677T: a case report

by Masaru Shimura, Hikari Yamada, Hidekuni Takahashi, Naoto Yamada, Soken Go, Gaku Yamanaka, Hisashi Kawashima
Published 2019-08-01

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

by Rui Ban, Rui Ban, Zhimei Liu, Masaru Shimura, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2021-07-01

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency

by Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama
Published 2020-09-01

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

by Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2021-05-01

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

by Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2020-10-01

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

by 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
Published 2020-09-01

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

by 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
Published 2020-09-01

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

by 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
Published 2021-02-01

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

by 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
Published 2020-07-01

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

by 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
Published 2016-01-01