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Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).
Yamauchi M, Nakayama H, Shiota S, Ohshima Y, Terada J, Nishijima T, Kosuga M, Kitamura T, Tachibana N, Oguri T, Shirahama R, Aoki Y, Ishigaki K, Sugie K, Yagi T, Muraki H, Fujita Y, Takatani T, Muro S. Yamauchi M, et al. Among authors: kosuga m. Sleep Breath. 2021 Jun;25(2):695-704. doi: 10.1007/s11325-020-02170-6. Epub 2020 Aug 18. Sleep Breath. 2021. PMID: 32808237
Newborn screening for Pompe disease in Japan.
Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: kosuga m. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784
A Senile Case of Late-onset Pompe's Disease.
Takano H, Ishihara T, Kosuga M, Okuyama T. Takano H, et al. Among authors: kosuga m. Intern Med. 2016;55(18):2723-5. doi: 10.2169/internalmedicine.55.6803. Epub 2016 Sep 15. Intern Med. 2016. PMID: 27629975 Free article.
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, Fukuda T, Sugie H, Kosuga M, Okuyama T, Umeda Y. Matsuoka T, et al. Among authors: kosuga m. Mol Genet Metab Rep. 2016 Nov 18;9:98-105. doi: 10.1016/j.ymgmr.2016.11.001. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27896132 Free PMC article.
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.
Yamazaki N, Kosuga M, Kida K, Takei G, Fukuhara Y, Matsumoto H, Senda M, Honda A, Ishiguro A, Koike T, Yabe H, Okuyama T. Yamazaki N, et al. Among authors: kosuga m. Brain Dev. 2019 Jun;41(6):546-550. doi: 10.1016/j.braindev.2019.01.008. Epub 2019 Feb 10. Brain Dev. 2019. PMID: 30755342
[Cerebro-oculo-facio-skeletal (COFS) syndrome].
Kosuga M, Okuyama T. Kosuga M, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):49-50. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057139 Review. Japanese. No abstract available.
71 results