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546 results

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Page 1
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Shimada T, Kelly J, LaMarr WA, van Vlies N, Yasuda E, Mason RW, Mackenzie W, Kubaski F, Giugliani R, Chinen Y, Yamaguchi S, Suzuki Y, Orii KE, Fukao T, Orii T, Tomatsu S. Shimada T, et al. Among authors: orii ke, orii t. Mol Genet Metab. 2014 Sep-Oct;113(1-2):92-9. doi: 10.1016/j.ymgme.2014.07.008. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25092413 Free PMC article.
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Tomatsu S, et al. Among authors: orii t. Mol Genet Metab. 2010 Feb;99(2):124-31. doi: 10.1016/j.ymgme.2009.10.001. Epub 2009 Oct 12. Mol Genet Metab. 2010. PMID: 19932038
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Yasuda E, Fushimi K, Suzuki Y, Shimizu K, Takami T, Zustin J, Patel P, Ruhnke K, Shimada T, Boyce B, Kokas T, Barone C, Theroux M, Mackenzie W, Nagel B, Ryerse JS, Orii KE, Iida H, Orii T, Tomatsu S. Yasuda E, et al. Among authors: orii ke, orii t. Mol Genet Metab. 2013 Jul;109(3):301-11. doi: 10.1016/j.ymgme.2013.04.009. Epub 2013 Apr 16. Mol Genet Metab. 2013. PMID: 23683769
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Among authors: orii t. Mol Genet Metab. 2013 Sep-Oct;110(1-2):42-53. doi: 10.1016/j.ymgme.2013.06.007. Epub 2013 Jun 21. Mol Genet Metab. 2013. PMID: 23860310 Free PMC article. Review.
Growth charts for patients with Hunter syndrome.
Patel P, Suzuki Y, Maeda M, Yasuda E, Shimada T, Orii KE, Orii T, Tomatsu S. Patel P, et al. Among authors: orii ke, orii t. Mol Genet Metab Rep. 2014;1:5-18. doi: 10.1016/j.ymgmr.2013.10.001. Mol Genet Metab Rep. 2014. PMID: 24955330 Free PMC article.
Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications.
Tomatsu S, Shimada T, Mason RW, Kelly J, LaMarr WA, Yasuda E, Shibata Y, Futatsumori H, Montaño AM, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Among authors: orii t. J Anal Bioanal Tech. 2014 Mar 1;2014(Suppl 2):006. doi: 10.4172/2155-9872.S2-006. J Anal Bioanal Tech. 2014. PMID: 25068074 Free PMC article.
Establishment of glycosaminoglycan assays for mucopolysaccharidoses.
Tomatsu S, Shimada T, Mason RW, Montaño AM, Kelly J, LaMarr WA, Kubaski F, Giugliani R, Guha A, Yasuda E, Mackenzie W, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Among authors: orii t. Metabolites. 2014 Aug 11;4(3):655-79. doi: 10.3390/metabo4030655. Metabolites. 2014. PMID: 25116756 Free PMC article. Review.
Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.
Tanjuakio J, Suzuki Y, Patel P, Yasuda E, Kubaski F, Tanaka A, Yabe H, Mason RW, Montaño AM, Orii KE, Orii KO, Fukao T, Orii T, Tomatsu S. Tanjuakio J, et al. Among authors: orii ke, orii ko, orii t. Mol Genet Metab. 2015 Feb;114(2):161-9. doi: 10.1016/j.ymgme.2014.11.002. Epub 2014 Nov 8. Mol Genet Metab. 2015. PMID: 25468646 Free PMC article.
Therapies for the bone in mucopolysaccharidoses.
Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T. Tomatsu S, et al. Among authors: orii ke, orii t. Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9. Mol Genet Metab. 2015. PMID: 25537451 Free PMC article. Review.
546 results