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Page 1
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.
Viana GM, de Lima NO, Cavaleiro R, Alves E, Souza IC, Feio R, Leistner-Segal S, Schwartz I, Giugliani R, da Silva LC. Viana GM, et al. Among authors: giugliani r. Genet Mol Biol. 2011 Jul;34(3):410-5. doi: 10.1590/S1415-47572011005000025. Epub 2011 Jul 1. Genet Mol Biol. 2011. PMID: 21931511 Free PMC article.
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: giugliani r. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681
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. Among authors: giugliani r. 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. Among authors: giugliani r. Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x. Acta Paediatr. 2007. PMID: 17391446
Treatment of inborn errors of metabolism.
Schwartz IV, Souza CF, Giugliani R. Schwartz IV, et al. Among authors: giugliani r. J Pediatr (Rio J). 2008 Aug;84(4 Suppl):S8-19. doi: 10.2223/JPED.1801. Epub 2008 Aug 22. J Pediatr (Rio J). 2008. PMID: 18758655 Review. English, Portuguese.
Punctate calcifications in lysosomal storage disorders.
Schwartz IVD, Artigalás O, Ries M, Clarke JTR, Giugliani R, Beck M. Schwartz IVD, et al. Among authors: giugliani r. Clin Dysmorphol. 2009 Jul;18(3):172-177. doi: 10.1097/MCD.0b013e32832a9ed5. Clin Dysmorphol. 2009. PMID: 19339876 No abstract available.
586 results