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Rossella Parini

Showing results (31-40 of 121) with videos related to

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Journal of Inherited Metabolic Disease|March 6, 2019
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramPaul R Harmatz, Christina Lampe, Rossella Parini, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Glycobiology|December 22, 2018
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationRossella Indellicato, Rossella Parini, Ruben Domenighini, et al.
Pediatric Research|September 3, 2015
Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 ySimon A Jones, Martin Bialer, Rossella Parini, et al.
BMC Ophthalmology|November 18, 2016
Paediatric Fabry disease: prognostic significance of ocular changes for disease severityGisela Kalkum, Susanne Pitz, Nesrin Karabul, et al.
Drug Design, Development and Therapy|June 26, 2020
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of AgeRossella Parini, Guillem Pintos-Morell, Julia B Hennermann, et al.
Molecular Genetics and Metabolism|May 17, 2025
Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-upBarbara K Burton, Paul R Harmatz, Veronika Horvathova, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disordersAlessandra Brambilla, Maria L Bianchi, Raffaella Cancello, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|April 26, 2007
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelinesMirco Belingheri, Luciana Ghio, Ambra Sala, et al.
Pageof 13

Showing results (31-40 of 121) with videos related to

Sort By:
Pageof 13
Journal of Inherited Metabolic Disease|March 6, 2019
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramPaul R Harmatz, Christina Lampe, Rossella Parini, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Glycobiology|December 22, 2018
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationRossella Indellicato, Rossella Parini, Ruben Domenighini, et al.
Pediatric Research|September 3, 2015
Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 ySimon A Jones, Martin Bialer, Rossella Parini, et al.
BMC Ophthalmology|November 18, 2016
Paediatric Fabry disease: prognostic significance of ocular changes for disease severityGisela Kalkum, Susanne Pitz, Nesrin Karabul, et al.
Drug Design, Development and Therapy|June 26, 2020
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of AgeRossella Parini, Guillem Pintos-Morell, Julia B Hennermann, et al.
Molecular Genetics and Metabolism|May 17, 2025
Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-upBarbara K Burton, Paul R Harmatz, Veronika Horvathova, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disordersAlessandra Brambilla, Maria L Bianchi, Raffaella Cancello, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|April 26, 2007
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelinesMirco Belingheri, Luciana Ghio, Ambra Sala, et al.
Pageof 13