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R Giugliani

Showing results (71-80 of 164) with videos related to

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Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas|April 9, 2008
Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNAR C Balestrin, G Baldo, M B Vieira, et al.
Journal of Medical Genetics|May 29, 2009
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome SurveyA Mehta, J T R Clarke, R Giugliani, et al.
Birth (Berkeley, Calif.)|February 3, 2000
Does parental breastfeeding knowledge increase breastfeeding rates?L R Susin, E R Giugliani, S C Kummer, et al.
Acta Neurologica Scandinavica|March 5, 2003
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotypeL Jardim, I Silveira, M L Pereira, et al.
Human Mutation|May 25, 1999
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.
American Journal of Medical Genetics|June 9, 1999
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 27, 2012
Reliable detection of mucopolysacchariduria in dried-urine filter paper samplesG Civallero, F Bender, A Gomes, et al.
Clinical Biochemistry|June 26, 1999
Biochemical studies on leukocyte and fibroblast human beta-galactosidaseJ C Coelho, A M Sopelsa, P R Tobo, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in BrazilR Giugliani, J C Dutra, M L Barth, et al.
Clinical Biochemistry|February 27, 2007
The use of LR values to check the best fit of cut-off values in G6PD deficient casesS M Castro, R Weber, U Matte, et al.
Pageof 17

Showing results (71-80 of 164) with videos related to

Sort By:
Pageof 17
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas|April 9, 2008
Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNAR C Balestrin, G Baldo, M B Vieira, et al.
Journal of Medical Genetics|May 29, 2009
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome SurveyA Mehta, J T R Clarke, R Giugliani, et al.
Birth (Berkeley, Calif.)|February 3, 2000
Does parental breastfeeding knowledge increase breastfeeding rates?L R Susin, E R Giugliani, S C Kummer, et al.
Acta Neurologica Scandinavica|March 5, 2003
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotypeL Jardim, I Silveira, M L Pereira, et al.
Human Mutation|May 25, 1999
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.
American Journal of Medical Genetics|June 9, 1999
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 27, 2012
Reliable detection of mucopolysacchariduria in dried-urine filter paper samplesG Civallero, F Bender, A Gomes, et al.
Clinical Biochemistry|June 26, 1999
Biochemical studies on leukocyte and fibroblast human beta-galactosidaseJ C Coelho, A M Sopelsa, P R Tobo, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in BrazilR Giugliani, J C Dutra, M L Barth, et al.
Clinical Biochemistry|February 27, 2007
The use of LR values to check the best fit of cut-off values in G6PD deficient casesS M Castro, R Weber, U Matte, et al.
Pageof 17