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546 results

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Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS.
Stapleton M, Kubaski F, Mason RW, Shintaku H, Kobayashi H, Yamaguchi S, Taketani T, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Stapleton M, et al. Among authors: orii t. Mol Genet Metab Rep. 2020 Jan 10;22:100563. doi: 10.1016/j.ymgmr.2019.100563. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956510 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: 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.
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.
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.
Activity of daily living for Morquio A syndrome.
Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Xie L, Miller F, Rahman T, Kecskemethy HH, Nagao K, Morlet T, Shaffer TH, Chinen Y, Yabe H, Tanaka A, Shintaku H, Orii KE, Orii KO, Mason RW, Montaño AM, Fukao T, Orii T, Tomatsu S. Yasuda E, et al. Among authors: orii ke, orii ko, orii t. Mol Genet Metab. 2016 Jun;118(2):111-22. doi: 10.1016/j.ymgme.2016.04.005. Epub 2016 Apr 25. Mol Genet Metab. 2016. PMID: 27161890 Free PMC article.
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Kubaski F, Mason RW, Nakatomi A, Shintaku H, Xie L, van Vlies NN, Church H, Giugliani R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii T, Fukao T, Montaño AM, Tomatsu S. Kubaski F, et al. Among authors: orii t. J Inherit Metab Dis. 2017 Jan;40(1):151-158. doi: 10.1007/s10545-016-9981-6. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718145 Free PMC article.
Glycosaminoglycans detection methods: Applications of mass spectrometry.
Kubaski F, Osago H, Mason RW, Yamaguchi S, Kobayashi H, Tsuchiya M, Orii T, Tomatsu S. Kubaski F, et al. Among authors: orii t. Mol Genet Metab. 2017 Jan-Feb;120(1-2):67-77. doi: 10.1016/j.ymgme.2016.09.005. Epub 2016 Sep 28. Mol Genet Metab. 2017. PMID: 27746032 Free PMC article. Review.
546 results