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Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
Schwartz IV, Lima LC, Tylee K, Sobrinho RP, Norato DY, Duarte AR, Besley G, Burin MG, Matte U, Giugliani R, Leistner-Segal S. Schwartz IV, et al. Am J Med Genet A. 2006 Aug 1;140(15):1684-6. doi: 10.1002/ajmg.a.31317. Am J Med Genet A. 2006. PMID: 16770800 No abstract available.
A clinical study of 77 patients with mucopolysaccharidosis type II.
Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IV, et al. Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x. Acta Paediatr. 2007. PMID: 17391446
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
Schwartz IVD, Pinto LLC, Breda G, Lima L, Ribeiro MG, Mota JG, Acosta AX, Correia P, Horovitz DDG, Porciuncula CGG, Lipinski-Figueiredo E, Fett-Conte AC, Oliveira Sobrinho RP, Norato DYJ, Paula AC, Kim CA, Duarte AR, Boy R, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IVD, et al. J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821143
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Important aspects in the molecular diagnosis of mucopolysaccharidoses.
Brusius-Facchin AC, Kubaski F, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. 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.
80 results