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CFTR gene: molecular analysis in patients from South Brazil.
Streit C, Burlamaque-Neto AC, de Abreu e Silva F, Giugliani R, Saraiva Pereira ML. Streit C, et al. Among authors: giugliani r. Mol Genet Metab. 2003 Apr;78(4):259-64. doi: 10.1016/s1096-7192(03)00033-7. Mol Genet Metab. 2003. PMID: 12706377
Molecular characterization of phenylketonuria in South Brazil.
Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Santana da Silva LC, et al. Among authors: giugliani r. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842
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
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
Deon M, Wajner M, Sirtori LR, Fitarelli D, Coelho DM, Sitta A, Barschak AG, Ferreira GC, Haeser A, Giugliani R, Vargas CR. Deon M, et al. Among authors: giugliani r. J Neurol Sci. 2006 Sep 25;247(2):157-64. doi: 10.1016/j.jns.2006.04.004. Epub 2006 Jun 5. J Neurol Sci. 2006. PMID: 16750542 Clinical Trial.
Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
Deon M, Sitta A, Barschak AG, Coelho DM, Terroso T, Schmitt GO, Wanderley HY, Jardim LB, Giugliani R, Wajner M, Vargas CR. Deon M, et al. Among authors: giugliani r. J Neurol Sci. 2008 Mar 15;266(1-2):79-83. doi: 10.1016/j.jns.2007.08.043. Epub 2007 Oct 2. J Neurol Sci. 2008. PMID: 17915255
586 results