Giugliani R - Search Results

1

Lysosomal diseases: Overview on current diagnosis and treatment.

Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: giugliani r. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.

2

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.

Castilhos CD, Mello AS, Burin MG, Guidobono RR, Gotardo S, Giugliani R, Coelho JC. Castilhos CD, et al. Among authors: giugliani r. Am J Med Genet A. 2003 Jun 15;119A(3):348-51. doi: 10.1002/ajmg.a.20203. Am J Med Genet A. 2003. PMID: 12784303

3

Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.

Petry MF, Dieter T, Burin M, Giugliani R, Leistner S. Petry MF, et al. Among authors: giugliani r. Genet Test. 2003 Winter;7(4):347-9. doi: 10.1089/109065703322783743. Genet Test. 2003. PMID: 15000815

4

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

5

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases.

Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, Coelho JC. Wajner A, et al. Among authors: giugliani r. Clin Biochem. 2004 Oct;37(10):893-7. doi: 10.1016/j.clinbiochem.2004.06.008. Clin Biochem. 2004. PMID: 15369720

6

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

Michelin K, Wajner A, de Souza FT, de Mello AS, Burin MG, Pereira ML, Pires RF, Giugliani R, Coelho JC. Michelin K, et al. Among authors: giugliani r. Am J Med Genet A. 2005 Jul 1;136(1):58-62. doi: 10.1002/ajmg.a.30787. Am J Med Genet A. 2005. PMID: 15937950

7

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. Among authors: giugliani r. Community Genet. 2006;9(2):127-32. doi: 10.1159/000091494. Community Genet. 2006. PMID: 16612064

8

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

9

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.

10

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.

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