Giugliani R - Search Results

1

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M, Bock H, Michelin-Tirelli K, Coelho JC, Giugliani R, Saraiva-Pereira ML. Siebert M, et al. Among authors: giugliani r. JIMD Rep. 2013;9:7-16. doi: 10.1007/8904_2012_174. Epub 2012 Oct 9. JIMD Rep. 2013. PMID: 23430543 Free PMC article.

2

Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.

Mandelli J, Wajner A, Pires RF, Giugliani R, Coelho JC. Mandelli J, et al. Among authors: giugliani r. Arch Med Res. 2002 Jan-Feb;33(1):20-4. doi: 10.1016/s0188-4409(01)00334-4. Arch Med Res. 2002. PMID: 11825626

3

Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I.

Mandelli J, Wajner A, Pires R, Giugliani R, Coelho JC. Mandelli J, et al. Among authors: giugliani r. Clin Chim Acta. 2002 Apr;318(1-2):83-9. doi: 10.1016/s0009-8981(01)00811-7. Clin Chim Acta. 2002. PMID: 11880116

4

Detection of organic acidemias in Brazil.

Wajner M, Raymond K, Barschak A, Luft AP, Ferreira G, Domingues G, Chiochetta M, Sirtori L, Goulart L, Pulrolnik V, Pires R, Grillo E, Lohr A, Funayama C, Sanseverino MT, Longuercio-Leite JC, Coelho JC, Giugliani R, Regla-Vargas C. Wajner M, et al. Among authors: giugliani r. Arch Med Res. 2002 Nov-Dec;33(6):581-5. doi: 10.1016/s0188-4409(02)00402-2. Arch Med Res. 2002. PMID: 12505106

5

CFTR gene: molecular analysis in patients from South Brazil.

Streit C, Burlamaque-Neto AC, de Abreu e Silva F, Giugliani R, Saraiva Pereira ML. Streit C, et al. Among authors: giugliani r. Mol Genet Metab. 2003 Apr;78(4):259-64. doi: 10.1016/s1096-7192(03)00033-7. Mol Genet Metab. 2003. PMID: 12706377

6

Molecular characterization of phenylketonuria in South Brazil.

Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Santana da Silva LC, et al. Among authors: giugliani r. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842

7

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

8

Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.

Michelin K, Wajner A, Goulart Lda S, Fachel AA, Pereira ML, de Mello AS, Souza FT, Pires RF, Giugliani R, Coelho JC. Michelin K, et al. Among authors: giugliani r. Clin Chim Acta. 2004 May;343(1-2):145-53. doi: 10.1016/j.cccn.2004.01.010. Clin Chim Acta. 2004. PMID: 15115687

9

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

10

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

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