Below are the most recent publications written about "Mucopolysaccharidosis II" by people in Profiles.
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Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H. Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. Int J Mol Sci. 2020 Mar 16; 21(6).
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Osaki Y, Saito A, Kanemoto S, Kaneko M, Matsuhisa K, Asada R, Masaki T, Orii K, Fukao T, Tomatsu S, Imaizumi K. Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. Cell Death Dis. 2018 07 24; 9(8):808.
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Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, Theroux M, Kobayashi H, Yamaguchi S, Suzuki Y, Fukao T, Tadao O, Ida H, Tomatsu S. Critical review of current MPS guidelines and management. Mol Genet Metab. 2019 03; 126(3):238-245.
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Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018 09; 125(1-2):44-52.
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Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal S, Giugliani R, Dung VC, Ngoc CTB, Yamaguchi S, Monta?o AM, Orii KE, Fukao T, Shintaku H, Orii T, Tomatsu S. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. Biol Blood Marrow Transplant. 2017 Oct; 23(10):1795-1803.
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Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 07; 121(3):227-240.
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Tanjuakio J, Suzuki Y, Patel P, Yasuda E, Kubaski F, Tanaka A, Yabe H, Mason RW, Monta?o AM, Orii KE, Orii KO, Fukao T, Orii T, Tomatsu S. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 2015 Feb; 114(2):161-9.
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Yoon MK, Chen RW, Hedges TR, Srinivasan VJ, Gorczynska I, Fujimoto JG, Wojtkowski M, Schuman JS, Duker JS. High-speed, ultrahigh resolution optical coherence tomography of the retina in Hunter syndrome. Ophthalmic Surg Lasers Imaging. 2007 Sep-Oct; 38(5):423-8.
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Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations. Eur J Hum Genet. 2006 Jul; 14(7):838-45.