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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
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
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R.
Azevedo AC, et al. Among authors: brustolin s.
Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x.
Clin Genet. 2004.
PMID: 15324318
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Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Thofehrn S, Netto C, Cecchin C, Burin M, Matte U, Brustolin S, Nunes AC, Coelho J, Tsao M, Jardim L, Giugliani R, Barros EJ.
Thofehrn S, et al. Among authors: brustolin s.
Ren Fail. 2009;31(9):773-8. doi: 10.3109/08860220903150296.
Ren Fail. 2009.
PMID: 19925283
Clinical Trial.
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Assessment of a pioneer metabolic information service in Brazil.
Brustolin S, Souza C, Puga AC, Refosco L, Pires R, Peres R, Giugliani R.
Brustolin S, et al.
Community Genet. 2006;9(2):127-32. doi: 10.1159/000091494.
Community Genet. 2006.
PMID: 16612064
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Genetics of homocysteine metabolism and associated disorders.
Brustolin S, Giugliani R, Félix TM.
Brustolin S, et al.
Braz J Med Biol Res. 2010 Jan;43(1):1-7. doi: 10.1590/s0100-879x2009007500021. Epub 2009 Dec 4.
Braz J Med Biol Res. 2010.
PMID: 19967264
Free PMC article.
Review.
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