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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. 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
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. 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.
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.
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. 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, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Biomarkers in patients with mucopolysaccharidosis type II and IV.
Fujitsuka H, Sawamoto K, Peracha H, Mason RW, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Fujitsuka H, et al. Mol Genet Metab Rep. 2019 Feb 5;19:100455. doi: 10.1016/j.ymgmr.2019.100455. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30775257 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 37162389
145 results