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Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, Miyabayashi S, Ohnishi T, Sakai N, Wataya-Kaneda M, Kubota M, Takahashi T, Mori T, Tamura K, Kageyama S, Shio N, Maeba T, Yahagi H, Tanaka M, Oka M, Sugiyama H, Sugawara T, Mori N, Tsukamoto H, Tamagaki K, Tanda S, Suzuki Y, Shinonaga C, Miyazaki J, Ishii S, Gejyo F. Shimotori M, et al. Among authors: ishii s. Hum Mutat. 2008 Feb;29(2):331. doi: 10.1002/humu.9520. Hum Mutat. 2008. PMID: 18205205
Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S. Shiozuka C, et al. Among authors: ishii s. J Biochem. 2011 Feb;149(2):161-70. doi: 10.1093/jb/mvq125. Epub 2010 Oct 19. J Biochem. 2011. PMID: 20961863 Free PMC article.
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Maruyama H, et al. Among authors: ishii s. Genet Med. 2019 Jan;21(1):44-52. doi: 10.1038/gim.2018.31. Epub 2018 Mar 15. Genet Med. 2019. PMID: 29543226 Free PMC article.
2,609 results