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Page 1
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Karageorgos L, et al. Among authors: leao teles e. Hum Mutat. 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. Hum Mutat. 2007. PMID: 17458871
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.
Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P; MPS VI Study Group. Braunlin E, et al. Among authors: leao teles e. J Inherit Metab Dis. 2013 Mar;36(2):385-94. doi: 10.1007/s10545-012-9481-2. Epub 2012 Jun 5. J Inherit Metab Dis. 2013. PMID: 22669363 Free PMC article.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. Ventura FV, et al. Among authors: leao teles e. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P. Giugliani R, et al. Among authors: leao teles e. Am J Med Genet A. 2014 Aug;164A(8):1953-64. doi: 10.1002/ajmg.a.36584. Epub 2014 Apr 24. Am J Med Genet A. 2014. PMID: 24764221 Free PMC article.
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group. Harmatz P, et al. Among authors: leao teles e. Mol Genet Metab. 2017 Sep;122(1-2):107-112. doi: 10.1016/j.ymgme.2017.03.008. Epub 2017 Mar 31. Mol Genet Metab. 2017. PMID: 28457718 Free article. Clinical Trial.
44 results