Giugliani R - Search Results

1

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

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

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

8

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

9

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

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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