A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies von Kohda, Masakazu, Tokuzawa, Yoshimi, Kishita, Yoshihito, Nyuzuki, Hiromi, Moriyama, Yohsuke, Mizuno, Yosuke, Hirata, Tomoko, Yatsuka, Yukiko, Yamashita-Sugahara, Yzumi, Nakachi, Yutaka, Kato, Hidemasa, Okuda, Akihiko, Tamaru, Shunsuke, Borna, Nurun Nahar, Banshoya, Kengo, Aigaki, Toshiro, Sato-Miyata, Yukiko, Ohnuma, Kohei, Suzuki, Tsutomu, Nagao, Asuteka, Maehata, Hazuki, Matsuda, Fumihiko, Higasa, Koichiro, Nagasaki, Masao, Yasuda, Jun, Yamamoto, Masayuki, Fushimi, Takuya, Shimura, Masaru, Kaiho-Ichimoto, Keiko, Harashima, Hiroko, Yamazaki, Taro, Mori, Masato, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi

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

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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients von Ogawa, Erika, Shimura, Masaru, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Mori, Masato, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Takahashi, Shori, Ohtake, Akira, Murayama, Kei

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

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

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Novel ITPA variants identified by whole genome sequencing and RNA sequencing von Omichi, Nanako, Kishita, Yoshihito, Nakama, Mina, Sasai, Hideo, Terazawa, Atsushi, Kobayashi, Emiko, Fushimi, Takuya, Sugiyama, Yohei, Ichimoto, Keiko, Nitta, Kazuhiro R, Yatsuka, Yukiko, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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

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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients von Imai-Okazaki, Atsuko, Matsunaga, Ayako, Yatsuka, Yukiko, Nitta, Kazuhiro R., Kishita, Yoshihito, Sugiura, Ayumu, Sugiyama, Yohei, Fushimi, Takuya, Shimura, Masaru, Ichimoto, Keiko, Tajika, Makiko, Ogawa-Tominaga, Minako, Ebihara, Tomohiro, Matsuhashi, Tetsuro, Tsuruoka, Tomoko, Kohda, Masakazu, Hirata, Tomoko, Harashima, Hiroko, Nojiri, Shuko, Takeda, Atsuhito, Nakaya, Akihiro, Kogaki, Shigetoyo, Sakata, Yasushi, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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

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

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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy von Ozaki, Kokoro, Yatsuka, Yukiko, Oyazato, Yoshinobu, Nishiyama, Atsushi, Nitta, Kazuhiro R., Kishita, Yoshihito, Fushimi, Takuya, Shimura, Masaru, Noma, Shohei, Sugiyama, Yohei, Tagami, Michihira, Fukunaga, Moe, Kinoshita, Hiroko, Hirata, Tomoko, Suda, Wataru, Murakawa, Yasuhiro, Carninci, Piero, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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Therapeutic effect of N-carbamylglutamate in CPS1 deficiency von 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

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

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

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

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

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Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report von Motobayashi, Mitsuo, Munakata, Shun, Kitazawa, Noritaka, Fushimi, Takuya, Murayama, Kei, Inaba, Yuji

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

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Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background von Imai-Okazaki, Atsuko, Kishita, Yoshihito, Kohda, Masakazu, Mizuno, Yosuke, Fushimi, Takuya, Matsunaga, Ayako, Yatsuka, Yukiko, Hirata, Tomoko, Harashima, Hiroko, Takeda, Atsuhito, Nakaya, Akihiro, Sakata, Yasushi, Kogaki, Shigetoyo, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness von Borna, Nurun Nahar, Kishita, Yoshihito, Abe, Jiro, Furukawa, Takuro, Ogawa-Tominaga, Minako, Fushimi, Takuya, Imai-Okazaki, Atsuko, Takeda, Atsuhito, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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