Hasil Pencarian - R. Giugliani

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  1. 1
    Genetics of homocysteine metabolism and associated disorders

    Genetics of homocysteine metabolism and associated disorders oleh S. Brustolin, R. Giugliani, T.M. Félix

    Diterbitkan 2010-01-01
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  2. 2
    Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts

    Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts oleh F.B. Scalco, R. Giugliani, P. Tobo, J.C. Coelho

    Diterbitkan 1999-01-01
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  3. 3
    Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

    Arylsulfatase A pseudodeficiency in healthy Brazilian individuals oleh C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira

    Diterbitkan 1999-08-01
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  4. 4
    Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes

    Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes oleh M. Burin, C. Dutra-Filho, J. Brum, T. Mauricio, M. Amorim, R. Giugliani

    Diterbitkan 2000-09-01
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  5. 5
    Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA

    Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA oleh R.C. Balestrin, G. Baldo, M.B. Vieira, R. Sano, J.C. Coelho, R. Giugliani, U. Matte

    Diterbitkan 2008-04-01
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  6. 6
    Genomic analysis of Brazilian patients with Fabry disease

    Genomic analysis of Brazilian patients with Fabry disease oleh F.S. Pereira, L.B. Jardim, C.B. Netto, M.G. Burin, C. Cecchin, R. Giugliani, U.S. Matte

    Diterbitkan 2007-12-01
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  7. 7
    The polymorphism of the serotonin-2A receptor T102C is associated with age

    The polymorphism of the serotonin-2A receptor T102C is associated with age oleh P.F.C. Jobim, P.A.S. Prado-Lima, C.H.A. Schwanke, R. Giugliani, I.B.M. Cruz

    Diterbitkan 2008-11-01
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  8. 8
    The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases Efecto de Mycoplasma y del agente de eliminación de micoplasmas en la actividad de las hidrolasas en fibroblastos de pacientes con enfermedades lisosomales

    The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases Efecto de Mycoplasma y del agente de eliminación... oleh F. T. S. Souza, L. S. Sostruznik, R. C. Scolari, K. J. M. Castro, C. V. Andrade, R. Giugliani, J. C. Coelho

    Diterbitkan 2010-02-01
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  9. 9
    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

    Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa oleh D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel

    Diterbitkan 2017-05-01
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  10. 10
    Study of the comprehension of the scientific method by members of a university health research laboratory

    Study of the comprehension of the scientific method by members of a university health research laboratory oleh A.C. Burlamaque-Neto, G.R. Santos, L.M. Lisbôa, J.R. Goldim, C.L.B. Machado, U. Matte, R. Giugliani

    Diterbitkan 2012-02-01
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  11. 11
    Study of the comprehension of the scientific method by members of a university health research laboratory

    Study of the comprehension of the scientific method by members of a university health research laboratory oleh A.C. Burlamaque-Neto, G.R. Santos, L.M. Lisbôa, J.R. Goldim, C.L.B. Machado, U. Matte, R. Giugliani

    Diterbitkan 2012-02-01
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  12. 12
    Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

    Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations oleh E. C. Neto, J. Schulte, R. Rubim, E. Lewis, J. DeMari, C. Castilhos, A. Brites, R. Giugliani, K.P. Jensen, B. Wolf

    Diterbitkan 2004-03-01
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  13. 13
    Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

    Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients oleh R. Giugliani, P. Harmatz, S.A. Jones, N.J. Mendelsohn, A. Vellodi, Y. Qiu, C.J. Hendriksz, S. Vijayaraghavan, D.A.H. Whiteman, A. Pano

    Diterbitkan 2017-09-01
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  14. 14
    Severity score system for progressive myelopathy: development and validation of a new clinical scale

    Severity score system for progressive myelopathy: development and validation of a new clinical scale oleh R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim

    Diterbitkan 2012-07-01
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  15. 15
    Severity score system for progressive myelopathy: development and validation of a new clinical scale

    Severity score system for progressive myelopathy: development and validation of a new clinical scale oleh R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim

    Diterbitkan 2012-07-01
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  16. 16
    Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

    Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density oleh J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D. Duarte Filho, H. Bock, M.L. Saraiva-Pereira, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla

    Diterbitkan 2011-04-01
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  17. 17
    Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

    Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density oleh J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D. Duarte Filho, H. Bock, M.L. Saraiva-Pereira, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla

    Diterbitkan 2011-04-01
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  18. 18
    Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

    Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women oleh J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D.D. Filho, H. Bock, M.L. Saraiva-Pereira, I.P. Ewald, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla

    Diterbitkan 2012-10-01
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  19. 19
    Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

    Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women oleh J. Giacomazzi, E. Aguiar, E.I. Palmero, A.V. Schmidt, G. Skonieski, D.D. Filho, H. Bock, M.L. Saraiva-Pereira, I.P. Ewald, L. Schuler-Faccini, S.A. Camey, M. Caleffi, R. Giugliani, P. Ashton-Prolla

    Diterbitkan 2012-10-01
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  20. 20
    PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL

    PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFT... oleh J. Villarrubia, M. Wasserstein, A. Barbato, R. C. Gallagher, R. Giugliani, N. B. Guelbert, J. B. Hennermann, C. Hollak, T. Ikezoe, R. Lachmann, O. Lidove, P. Mabe, E. Mengel, M. Scarpa, E. Senates, M. Tchan, B. L. Thurberg, A. Yarramaneni, A. M. Rawlings, Y. Kim, M. Kumar

    Diterbitkan 2022-06-01
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