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371 results

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Page 1
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: mackenzie w. Metabolites. 2014 Aug 11;4(3):655-79. doi: 10.3390/metabo4030655. Metabolites. 2014. PMID: 25116756 Free PMC article. Review.
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: mackenzie w. 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. Among authors: mackenzie w. 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.
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: mackenzie w. 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: mackenzie w. 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.
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. Among authors: mackenzie w. 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. Among authors: mackenzie w. 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.
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: mackenzie w. Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y. Orphanet J Rare Dis. 2019. PMID: 31142378 Free PMC article.
371 results