Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction i...

por Hirono, Keiichi, Ichida, Fukiko, Nishio, Natsuhito, Ogawa‐Tominaga, Minako, Fushimi, Takuya, Feichtinger, Rene′ G., Mayr, Johannes A., Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Publicado 2019

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

por Ichimoto, Keiko, Fujisawa, Tomoo, Shimura, Masaru, Fushimi, Takuya, Tajika, Makiko, Matsunaga, Ayako, Ogawa-Tominaga, Minako, Akiyama, Nana, Naruke, Yuki, Horie, Hiroshi, Fukuda, Tokiko, Sugie, Hideo, Inui, Ayano, Murayama, Kei
Publicado 2020

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

por Sugiyama, Yohei, Shimura, Masaru, Ogawa-Tominaga, Minako, Ebihara, Tomohiro, Kinouchi, Yoshina, Isozaki, Keitaro, Matsuhashi, Tetsuro, Tajika, Makiko, Fushimi, Takuya, Ichimoto, Keiko, Matsunaga, Ayako, Ishida, Tomoki, Mizutani, Kayo, Tsuruoka, Tomoko, Murayama, Kei
Publicado 2020

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

por Shimura, Masaru, Nozawa, Naoko, Ogawa-Tominaga, Minako, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Kishita, Yoshihito, Ishii, Takuya, Takahashi, Kiwamu, Tanaka, Tohru, Nakajima, Motowo, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Publicado 2019

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

por Liu, Zhimei, Zhang, Li, Ren, Changhong, Xu, Manting, Li, Shufang, Ban, Rui, Wu, Ye, Chen, Ling, Sun, Suzhen, Elstner, Matthias, Shimura, Masaru, Ogawa-Tominaga, Minako, Murayama, Kei, Shi, Tieliu, Prokisch, Holger, Fang, Fang
Publicado 2022

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

por Ogawa, Erika, Fushimi, Takuya, Ogawa‐Tominaga, Minako, Shimura, Masaru, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Kishita, Yoshihito, Kohda, Masakazu, Imai‐Okazaki, Atsuko, Okazaki, Yasushi, Morioka, Ichiro, Ohtake, Akira, Murayama, Kei
Publicado 2020

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

por Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Matsuhashi, Tetsuro, Ichimoto, Keiko, Matsunaga, Ayako, Akiyama, Nana, Ogawa-Tominaga, Minako, Yatsuka, Yukiko, Nitta, Kazuhiro R, Kishita, Yoshihito, Fushimi, Takuya, Imai-Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Publicado 2022

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

por Shimura, Masaru, Kuranobu, Naomi, Ogawa-Tominaga, Minako, Akiyama, Nana, Sugiyama, Yohei, Ebihara, Tomohiro, Fushimi, Takuya, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Kishita, Yoshihito, Umetsu, Shuichiro, Inui, Ayano, Fujisawa, Tomoo, Tanikawa, Ken, Ito, Reiko, Fukuda, Akinari, Murakami, Jun, Kaji, Shunsaku, Kasahara, Mureo, Shiraki, Kazuo, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei
Publicado 2020