Giugliani R - Search Results

1

Worldwide distribution of common IDUA pathogenic variants.

Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G. Poletto E, et al. Among authors: giugliani r. Clin Genet. 2018 Jul;94(1):95-102. doi: 10.1111/cge.13224. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29393969 Review.

2

Unique frequency of known mutations in Brazilian MPS I patients.

Matte U, Leistner S, Lima L, Schwartz I, Giugliani R. Matte U, et al. Among authors: giugliani r. Am J Med Genet. 2000 Jan 17;90(2):108-9. doi: 10.1002/(sici)1096-8628(20000117)90:2<108::aid-ajmg3>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10607946

3

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Pasqualim G, Ribeiro MG, da Fonseca GG, Szlago M, Schenone A, Lemes A, Rojas MV, Matte U, Giugliani R. Pasqualim G, et al. Among authors: giugliani r. Clin Genet. 2015 Oct;88(4):376-80. doi: 10.1111/cge.12507. Epub 2014 Oct 21. Clin Genet. 2015. PMID: 25256405

4

Molecular analysis of the Pi*Z allele in patients with liver disease.

Lima LC, Matte U, Leistner S, Bopp AR, Scholl VC, Giugliani R, da Silveira TR. Lima LC, et al. Among authors: giugliani r. Am J Med Genet. 2001 Dec 15;104(4):287-90. doi: 10.1002/ajmg.10069. Am J Med Genet. 2001. PMID: 11754061

5

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model.

Camassola M, Braga LM, Delgado-Cañedo A, Dalberto TP, Matte U, Burin M, Giugliani R, Nardi NB. Camassola M, et al. Among authors: giugliani r. J Inherit Metab Dis. 2005;28(6):1035-43. doi: 10.1007/s10545-005-0070-5. J Inherit Metab Dis. 2005. PMID: 16435197

6

Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA.

Balestrin RC, Baldo G, Vieira MB, Sano R, Coelho JC, Giugliani R, Matte U. Balestrin RC, et al. Among authors: giugliani r. Braz J Med Biol Res. 2008 Apr;41(4):283-8. doi: 10.1590/s0100-879x2008000400005. Braz J Med Biol Res. 2008. PMID: 18392450 Free article.

7

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.

Azambuja AS, Pimentel-Vera LN, Gonzalez EA, Poletto E, Pinheiro CV, Matte U, Giugliani R, Baldo G. Azambuja AS, et al. Among authors: giugliani r. Metab Brain Dis. 2020 Oct;35(7):1231-1236. doi: 10.1007/s11011-020-00592-5. Epub 2020 Jul 4. Metab Brain Dis. 2020. PMID: 32623553

8

The use of LR values to check the best fit of cut-off values in G6PD deficient cases.

Castro SM, Weber R, Matte U, Reclos GJ, Pass KA, Tanyalcin T, Giugliani R. Castro SM, et al. Among authors: giugliani r. Clin Biochem. 2007 Apr;40(7):496-8. doi: 10.1016/j.clinbiochem.2007.01.001. Epub 2007 Jan 19. Clin Biochem. 2007. PMID: 17320848 No abstract available.

9

Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.

Jardim LB, Gomes I, Netto CB, Nora DB, Matte US, Pereira F, Burin MG, Kalakun L, Giugliani R, Becker J. Jardim LB, et al. Among authors: giugliani r. J Inherit Metab Dis. 2006 Oct;29(5):653-9. doi: 10.1007/s10545-006-0339-3. Epub 2006 Jul 27. J Inherit Metab Dis. 2006. PMID: 16972173

10

Cytotoxic effect of amphotericin B in a myofibroblast cell line.

Uribe CC, Dos Santos de Oliveira F, Grossmann B, Kretzmann NA, Reverbel da Silveira T, Giugliani R, Matte U. Uribe CC, et al. Among authors: giugliani r. Toxicol In Vitro. 2013 Oct;27(7):2105-9. doi: 10.1016/j.tiv.2013.08.005. Epub 2013 Aug 27. Toxicol In Vitro. 2013. PMID: 23988732

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