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195 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: mason rw. 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.
Non-invasive pulmonary function test on Morquio patients.
Kubaski F, Tomatsu S, Patel P, Shimada T, Xie L, Yasuda E, Mason R, Mackenzie WG, Theroux M, Bober MB, Oldham HM, Orii T, Shaffer TH. Kubaski F, et al. Mol Genet Metab. 2015 Aug;115(4):186-92. doi: 10.1016/j.ymgme.2015.06.007. Epub 2015 Jun 23. Mol Genet Metab. 2015. PMID: 26116954 Free PMC article.
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: mason rw. 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.
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: mason rw. 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: mason rw. 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: mason rw. 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: mason rw. 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.
Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.
Yasuda E, Mackenzie W, Ruhnke K, Shimada T, Mason RW, Zustin J, Martin PL, Thacker M, Orii T, Sai Y, Tomatsu S. Yasuda E, et al. Among authors: mason rw. Mol Genet Metab Rep. 2015 Mar;2:65-76. doi: 10.1016/j.ymgmr.2014.12.006. Mol Genet Metab Rep. 2015. PMID: 25709894 Free PMC article.
195 results