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Roberto Giugliani

Showing results (141-150 of 482) with videos related to

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Jornal De Pediatria|March 14, 2008
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strengthAntonio Cardoso-Santos, Ana C M M Azevedo, Simone Fagondes, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 28, 2008
Magnetic resonance imaging findings in Hunter syndromeChelsea T Finn, Leonardo Vedolin, Ida V Schwartz, et al.
Clinical Biochemistry|February 13, 2007
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher diseaseAlessandro Wajner, Kristiane Michelin, Maira G Burin, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.
Clinical Biochemistry|March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseasesGlynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
Cell Biochemistry and Biophysics|July 20, 2023
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement TherapyCarlos Eduardo Diaz Jacques, Gilian Guerreiro, Franciele Fatima Lopes, et al.
Genetics and Molecular Biology|December 20, 2021
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in BrazilFernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, et al.
Clinical Biochemistry|September 17, 2004
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseasesAlessandro Wajner, Kristiane Michelin, Maira G Burin, et al.
Metabolic Brain Disease|September 18, 2008
In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cellsValeska Lizzi Lagranha, Guilherme Baldo, Talita Giacomet de Carvalho, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|May 28, 2018
Spinal cord issues in adult patients with MPS: transition of care surveyKemel A Ghotme, Fernando Alvarado-Gomez, Christina Lampe, et al.
Pageof 49

Showing results (141-150 of 482) with videos related to

Sort By:
Pageof 49
Jornal De Pediatria|March 14, 2008
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strengthAntonio Cardoso-Santos, Ana C M M Azevedo, Simone Fagondes, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 28, 2008
Magnetic resonance imaging findings in Hunter syndromeChelsea T Finn, Leonardo Vedolin, Ida V Schwartz, et al.
Clinical Biochemistry|February 13, 2007
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher diseaseAlessandro Wajner, Kristiane Michelin, Maira G Burin, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.
Clinical Biochemistry|March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseasesGlynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
Cell Biochemistry and Biophysics|July 20, 2023
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement TherapyCarlos Eduardo Diaz Jacques, Gilian Guerreiro, Franciele Fatima Lopes, et al.
Genetics and Molecular Biology|December 20, 2021
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in BrazilFernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, et al.
Clinical Biochemistry|September 17, 2004
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseasesAlessandro Wajner, Kristiane Michelin, Maira G Burin, et al.
Metabolic Brain Disease|September 18, 2008
In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cellsValeska Lizzi Lagranha, Guilherme Baldo, Talita Giacomet de Carvalho, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|May 28, 2018
Spinal cord issues in adult patients with MPS: transition of care surveyKemel A Ghotme, Fernando Alvarado-Gomez, Christina Lampe, et al.
Pageof 49