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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Kondo H, et al. Among authors: nakaya a. Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377. Hum Mol Genet. 2017. PMID: 28013294
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Imai-Okazaki A, et al. Among authors: nakaya a. J Pediatr. 2018 Feb;193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15. J Pediatr. 2018. PMID: 29249525
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: nakaya 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
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: nakaya a. Int J Cardiol. 2021 Oct 15;341:48-55. doi: 10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Int J Cardiol. 2021. PMID: 34298071 Free article.
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y. Imai A, et al. Among authors: nakaya a. Int J Cardiol. 2016 Mar 15;207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7. Int J Cardiol. 2016. PMID: 26803244 No abstract available.
155 results