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Roberto Giugliani

Showing results (21-30 of 482) with videos related to

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Wires Mechanisms of Disease|November 3, 2021
Disruption of morphogenic and growth pathways in lysosomal storage diseasesThiago Corrêa, Bruno C Feltes, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|January 22, 2025
Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot studyAsma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Metabolomics : Official Journal of the Metabolomic Society|March 2, 2025
Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysisAsma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Drugs|October 12, 2025
Current and Emerging Treatments for Acid Sphingomyelinase DeficiencyTamires Silva Alves, Ana Luíza Fonseca Siqueira, Roberto Giugliani
Emerging Infectious Diseases|June 23, 2004
Newborn screening for congenital infectious diseasesEurico Camargo Neto, Rosélia Rubin, Jacqueline Schulte, et al.
Journal of Inherited Metabolic Disease|January 7, 2026
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1Krista Casazza, Roberto Giugliani, Debra S Regier, et al.
Orphanet Journal of Rare Diseases|April 21, 2020
Assessing the impact of the five senses on quality of life in mucopolysaccharidosesRoberto Giugliani, Paul Harmatz, Shuan-Pei Lin, et al.
Genetics and Molecular Biology|May 28, 2019
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseasesEdina Poletto, Gabriela Pasqualim, Roberto Giugliani, et al.
Orphanet Journal of Rare Diseases|November 19, 2020
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomesPâmella Borges, Gabriela Pasqualim, Roberto Giugliani, et al.
Molecular Genetics and Metabolism Reports|May 19, 2017
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Olaf Bodamer, Maurizio Scarpa, Christina Hung, et al.
Pageof 49

Showing results (21-30 of 482) with videos related to

Sort By:
Pageof 49
Wires Mechanisms of Disease|November 3, 2021
Disruption of morphogenic and growth pathways in lysosomal storage diseasesThiago Corrêa, Bruno C Feltes, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|January 22, 2025
Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot studyAsma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Metabolomics : Official Journal of the Metabolomic Society|March 2, 2025
Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysisAsma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Drugs|October 12, 2025
Current and Emerging Treatments for Acid Sphingomyelinase DeficiencyTamires Silva Alves, Ana Luíza Fonseca Siqueira, Roberto Giugliani
Emerging Infectious Diseases|June 23, 2004
Newborn screening for congenital infectious diseasesEurico Camargo Neto, Rosélia Rubin, Jacqueline Schulte, et al.
Journal of Inherited Metabolic Disease|January 7, 2026
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1Krista Casazza, Roberto Giugliani, Debra S Regier, et al.
Orphanet Journal of Rare Diseases|April 21, 2020
Assessing the impact of the five senses on quality of life in mucopolysaccharidosesRoberto Giugliani, Paul Harmatz, Shuan-Pei Lin, et al.
Genetics and Molecular Biology|May 28, 2019
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseasesEdina Poletto, Gabriela Pasqualim, Roberto Giugliani, et al.
Orphanet Journal of Rare Diseases|November 19, 2020
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomesPâmella Borges, Gabriela Pasqualim, Roberto Giugliani, et al.
Molecular Genetics and Metabolism Reports|May 19, 2017
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Olaf Bodamer, Maurizio Scarpa, Christina Hung, et al.
Pageof 49