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Page 1
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
Gene therapy for Mucopolysaccharidoses.
Sawamoto K, Chen HH, Alméciga-Díaz CJ, Mason RW, Tomatsu S. Sawamoto K, et al. Mol Genet Metab. 2018 Feb;123(2):59-68. doi: 10.1016/j.ymgme.2017.12.434. Epub 2017 Dec 26. Mol Genet Metab. 2018. PMID: 29295764 Free PMC article. Review.
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
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. 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.
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. Metabolites. 2014 Aug 11;4(3):655-79. doi: 10.3390/metabo4030655. Metabolites. 2014. PMID: 25116756 Free PMC article. Review.
Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Arunkumar N, et al. J Hum Genet. 2020 Jul;65(7):557-567. doi: 10.1038/s10038-020-0744-8. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277174 Review.
Morquio A syndrome: diagnosis and current and future therapies.
Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. Tomatsu S, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):141-51. Pediatr Endocrinol Rev. 2014. PMID: 25345096 Free PMC article. Review.
36 results