Giugliani R - Search Results

1

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Giugliani R, Brusius-Facchin AC, Pasqualim G, Leistner-Segal S, Riegel M, Matte U. Giugliani R, et al. Expert Rev Mol Diagn. 2016;16(1):113-23. doi: 10.1586/14737159.2016.1121101. Epub 2015 Dec 9. Expert Rev Mol Diagn. 2016. PMID: 26567866 Review.

2

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ. Matte U, et al. Among authors: giugliani r. Mol Genet Metab. 2003 Jan;78(1):37-43. doi: 10.1016/s1096-7192(02)00200-7. Mol Genet Metab. 2003. PMID: 12559846

3

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.

Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R. Burin MG, et al. Among authors: giugliani r. Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. Prenat Diagn. 2004. PMID: 15305357

4

The Latin-American network of human genetics.

Giugliani R, Matte U. Giugliani R, et al. Community Genet. 2004;7(2-3):74-5. doi: 10.1159/000080775. Community Genet. 2004. PMID: 15539821

5

Ontogenetic changes in serum S100B in Down syndrome patients.

Netto CB, Portela LV, Ferreira CT, Kieling C, Matte U, Felix T, da Silveira TR, Souza DO, Gonçalves CA, Giugliani R. Netto CB, et al. Among authors: giugliani r. Clin Biochem. 2005 May;38(5):433-5. doi: 10.1016/j.clinbiochem.2004.12.014. Clin Biochem. 2005. PMID: 15820773

6

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.

Civallero G, Michelin K, de Mari J, Viapiana M, Burin M, Coelho JC, Giugliani R. Civallero G, et al. Among authors: giugliani r. Clin Chim Acta. 2006 Oct;372(1-2):98-102. doi: 10.1016/j.cca.2006.03.029. Epub 2006 May 18. Clin Chim Acta. 2006. PMID: 16712827

7

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.

8

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

Jardim LB, Aesse F, Vedolin LM, Pitta-Pinheiro C, Marconato J, Burin MG, Cecchin C, Netto CB, Matte US, Pereira F, Kalakun L, Giugliani R. Jardim LB, et al. Among authors: giugliani r. Arq Neuropsiquiatr. 2006 Sep;64(3B):711-7. doi: 10.1590/s0004-282x2006000500002. Arq Neuropsiquiatr. 2006. PMID: 17057872 Free article.

9

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

10

Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced acute liver failure in rats.

Belardinelli MC, Pereira F, Baldo G, Vicente Tavares AM, Kieling CO, da Silveira TR, Meurer L, Soares Duarte ME, Giugliani R, Matte U. Belardinelli MC, et al. Among authors: giugliani r. Toxicology. 2008 May 2;247(1):1-5. doi: 10.1016/j.tox.2008.01.015. Epub 2008 Feb 1. Toxicology. 2008. PMID: 18336983

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