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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: kubaski f. 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.
Important aspects in the molecular diagnosis of mucopolysaccharidoses.
Brusius-Facchin AC, Kubaski F, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: kubaski f. J Inherit Metab Dis. 2013 Sep;36(5):905-6. doi: 10.1007/s10545-012-9557-z. Epub 2012 Nov 9. J Inherit Metab Dis. 2013. PMID: 23138989 No abstract available.
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Among authors: kubaski f. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.
Shimada T, Tomatsu S, Yasuda E, Mason RW, Mackenzie WG, Shibata Y, Kubaski F, Giugliani R, Yamaguchi S, Suzuki Y, Orii K, Orii T. Shimada T, et al. Among authors: kubaski f. JIMD Rep. 2014;16:15-24. doi: 10.1007/8904_2014_311. Epub 2014 May 22. JIMD Rep. 2014. PMID: 24850234 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: kubaski f. 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: kubaski f. 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: kubaski f. 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.
68 results