Giugliani R - Search Results

1

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Kubaski F, Brusius-Facchin AC, Mason RW, Patel P, Burin MG, Michelin-Tirelli K, Kessler RG, Bender F, Leistner-Segal S, Moreno CA, Cavalcanti DP, Giugliani R, Tomatsu S. Kubaski F, et al. Among authors: giugliani r. Prenat Diagn. 2017 May;37(5):435-439. doi: 10.1002/pd.5028. Epub 2017 Mar 12. Prenat Diagn. 2017. PMID: 28207930 Free PMC article.

2

Chromosome analysis in 31 cases of benign and malignant breast tumors: a study in Brazil.

Benetti MR, Kessler RG, Bittelbrunn AC, Frantz B, Biazus JV, Giugliani R. Benetti MR, et al. Among authors: giugliani r. Hereditas. 2002;137(1):57-64. doi: 10.1034/j.1601-5223.2002.1370108.x. Hereditas. 2002. PMID: 12564633 Free article.

3

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

4

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A. Tomatsu S, et al. Among authors: giugliani r. Pediatr Res. 2004 Apr;55(4):592-7. doi: 10.1203/01.PDR.0000113767.60140.E9. Epub 2004 Jan 7. Pediatr Res. 2004. PMID: 14711889

5

S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome.

Netto CB, Siqueira IR, Fochesatto C, Portela LV, da Purificação Tavares M, Souza DO, Giugliani R, Gonçalves CA. Netto CB, et al. Among authors: giugliani r. Clin Biochem. 2004 Feb;37(2):134-7. doi: 10.1016/j.clinbiochem.2003.09.010. Clin Biochem. 2004. PMID: 14725944

6

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

7

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

8

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

9

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

10

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

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