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Roberto Giugliani

Showing results (51-60 of 482) with videos related to

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Genetic Testing|March 6, 2004
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patientsMárcia Fernanda Gomes Petry, Tatiana Dieter, Maira Burin, et al.
Expert Review of Molecular Diagnostics|September 18, 2018
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidosesAna Carolina Brusius-Facchin, Diana Rojas Malaga, Sandra Leistner-Segal, et al.
Archives of Medical Research|February 5, 2002
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidaseJovana Mandelli, Alessandro Wajner, Ricardo F Pires, et al.
Genetics and Molecular Biology|October 19, 2018
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent reportRoberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, et al.
Molecular Genetics and Metabolism|June 5, 2012
Biomarkers for the mucopolysaccharidoses: discovery and clinical utilityLorne A Clarke, Bryan Winchester, Roberto Giugliani, et al.
Journal of Pediatric Rehabilitation Medicine|May 1, 2012
Functional capacity evaluation of patients with mucopolysaccharidosisNicole Ruas Guarany, Ida Vanessa D Schwartz, Fábio Coelho Guarany, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 24, 2017
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry diseaseAlana Pimentel Moura, Tatiane Hammerschmidt, Marion Deon, et al.
International Journal of Molecular Sciences|September 10, 2021
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the ArtMaría José de Castro, Mireia Del Toro, Roberto Giugliani, et al.
Journal of Community Genetics|December 19, 2023
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidosesDiane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, et al.
Orphanet Journal of Rare Diseases|June 1, 2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief reviewLouise L C Pinto, Taiane A Vieira, Roberto Giugliani, et al.
Pageof 49

Showing results (51-60 of 482) with videos related to

Sort By:
Pageof 49
Genetic Testing|March 6, 2004
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patientsMárcia Fernanda Gomes Petry, Tatiana Dieter, Maira Burin, et al.
Expert Review of Molecular Diagnostics|September 18, 2018
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidosesAna Carolina Brusius-Facchin, Diana Rojas Malaga, Sandra Leistner-Segal, et al.
Archives of Medical Research|February 5, 2002
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidaseJovana Mandelli, Alessandro Wajner, Ricardo F Pires, et al.
Genetics and Molecular Biology|October 19, 2018
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent reportRoberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, et al.
Molecular Genetics and Metabolism|June 5, 2012
Biomarkers for the mucopolysaccharidoses: discovery and clinical utilityLorne A Clarke, Bryan Winchester, Roberto Giugliani, et al.
Journal of Pediatric Rehabilitation Medicine|May 1, 2012
Functional capacity evaluation of patients with mucopolysaccharidosisNicole Ruas Guarany, Ida Vanessa D Schwartz, Fábio Coelho Guarany, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 24, 2017
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry diseaseAlana Pimentel Moura, Tatiane Hammerschmidt, Marion Deon, et al.
International Journal of Molecular Sciences|September 10, 2021
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the ArtMaría José de Castro, Mireia Del Toro, Roberto Giugliani, et al.
Journal of Community Genetics|December 19, 2023
Training of community health agents - a strategy for earlier recognition of mucopolysaccharidosesDiane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, et al.
Orphanet Journal of Rare Diseases|June 1, 2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief reviewLouise L C Pinto, Taiane A Vieira, Roberto Giugliani, et al.
Pageof 49