Saraiva-Pereira ML - 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. 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

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. Mol Genet Metab. 2003 Apr;78(4):259-64. doi: 10.1016/s1096-7192(03)00033-7. Mol Genet Metab. 2003. PMID: 12706377

3

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. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842

4

Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.

Vedolin L, de Souza CF, Silveira RS, Lopes BC, Laybauer LS, Saraiva Pereira ML, Giugliani R. Vedolin L, et al. Childs Nerv Syst. 2006 Oct;22(10):1355-9. doi: 10.1007/s00381-006-0082-y. Epub 2006 Mar 22. Childs Nerv Syst. 2006. PMID: 16552564

5

Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians.

Socal MP, Bock H, Michelin-Tirelli K, Hilbig A, Saraiva-Pereira ML, Rieder CR, Jardim LB. Socal MP, et al. Parkinsonism Relat Disord. 2009 Jan;15(1):76-8. doi: 10.1016/j.parkreldis.2008.01.019. Epub 2008 Mar 21. Parkinsonism Relat Disord. 2009. PMID: 18358758 No abstract available.

6

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.

Lagranha VL, Baldo G, de Carvalho TG, Burin M, Saraiva-Pereira ML, Matte U, Giugliani R. Lagranha VL, et al. Metab Brain Dis. 2008 Dec;23(4):469-84. doi: 10.1007/s11011-008-9107-4. Epub 2008 Sep 17. Metab Brain Dis. 2008. PMID: 18797988

7

Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder.

Tramontina JF, Yates D, Magalhães PV, Trentini C, Sant'anna MK, Fries GR, Bock H, Saraiva-Pereira ML, Kapczinski F. Tramontina JF, et al. Braz J Psychiatry. 2009 Jun;31(2):136-40. doi: 10.1590/s1516-44462009000200010. Braz J Psychiatry. 2009. PMID: 19578686 Free article.

8

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil.

Cossio SL, Koehler-Santos P, Pessini SA, Mónego H, Edelweiss MI, Meurer L, Errami A, Coffa J, Bock H, Saraiva-Pereira ML, Ashton-Prolla P, Prolla JC. Cossio SL, et al. Fam Cancer. 2010 Jun;9(2):131-9. doi: 10.1007/s10689-009-9297-x. Fam Cancer. 2010. PMID: 19821155

9

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.

Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894

10

Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil.

de Azevedo LA, Santin AP, Wagner SC, Zaleski Cda F, Bock H, Saraiva-Pereira ML, de Castro SM. de Azevedo LA, et al. Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):107-10. doi: 10.1089/gtmb.2010.0060. Genet Test Mol Biomarkers. 2011. PMID: 21275655

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