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Page 1
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: matsunaga a. Genet Med. 2024 Aug;26(8):101165. doi: 10.1016/j.gim.2024.101165. Epub 2024 May 16. Genet Med. 2024. PMID: 38762772 Free article.
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.
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
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.
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.
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.
Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?
Kasahara M, Sakamoto S, Fukuda A, Horikawa R, Ito R, Uchida H, Yanagi Y, Shimizu S, Nakao T, Mimori K, Haga C, Schlegel A, Ohtake A, Shimura M, Fushimi T, Ichimoto K, Matsunaga A, Murayama K. Kasahara M, et al. Among authors: matsunaga a. Liver Transpl. 2022 Mar;28(3):497-500. doi: 10.1002/lt.26296. Epub 2021 Oct 12. Liver Transpl. 2022. PMID: 34536975 No abstract available.
681 results