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A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K, Yamagata T, Osaka H. Kobayashi M, et al. Among authors: matsunaga a. Hum Genome Var. 2022 Sep 29;9(1):35. doi: 10.1038/s41439-022-00210-z. Hum Genome Var. 2022. PMID: 36175418 Free PMC article.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K. Ogawa E, et al. Among authors: matsunaga a. J Inherit Metab Dis. 2017 Sep;40(5):685-693. doi: 10.1007/s10545-017-0042-6. Epub 2017 Apr 20. J Inherit Metab Dis. 2017. PMID: 28429146 Free PMC article.
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.
Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: matsunaga a. Int J Cardiol. 2019 Mar 15;279:115-121. doi: 10.1016/j.ijcard.2019.01.017. Epub 2019 Jan 5. Int J Cardiol. 2019. PMID: 30642647
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Shimura M, et al. Among authors: matsunaga a. Sci Rep. 2019 Jul 22;9(1):10549. doi: 10.1038/s41598-019-46772-x. Sci Rep. 2019. PMID: 31332208 Free PMC article.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Ogawa E, et al. Among authors: matsunaga a. J Inherit Metab Dis. 2020 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10. J Inherit Metab Dis. 2020. PMID: 31967322 Free PMC article.
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Ichimoto K, Fujisawa T, Shimura M, Fushimi T, Tajika M, Matsunaga A, Ogawa-Tominaga M, Akiyama N, Naruke Y, Horie H, Fukuda T, Sugie H, Inui A, Murayama K. Ichimoto K, et al. Among authors: matsunaga a. Mol Genet Metab Rep. 2020 May 18;24:100601. doi: 10.1016/j.ymgmr.2020.100601. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32455116 Free PMC article.
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Sugiyama Y, Shimura M, Ogawa-Tominaga M, Ebihara T, Kinouchi Y, Isozaki K, Matsuhashi T, Tajika M, Fushimi T, Ichimoto K, Matsunaga A, Ishida T, Mizutani K, Tsuruoka T, Murayama K. Sugiyama Y, et al. Among authors: matsunaga a. Mol Genet Metab Rep. 2020 Jul 8;24:100622. doi: 10.1016/j.ymgmr.2020.100622. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32670798 Free PMC article.
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: matsunaga a. Orphanet J Rare Dis. 2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. Orphanet J Rare Dis. 2020. PMID: 32703289 Free PMC article.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: matsunaga a. Sci Rep. 2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y. Sci Rep. 2021. PMID: 33574353 Free PMC article.
659 results