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Roberto Giugliani

Showing results (71-80 of 482) with videos related to

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Orphanet Journal of Rare Diseases|October 31, 2021
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)Joseph Muenzer, Jaco Botha, Paul Harmatz, et al.
Gene|October 11, 2012
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosisFernanda Sperb, Filippo Vairo, Maira Burin, et al.
Molecular Genetics and Metabolism Reports|August 9, 2021
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registriesDeborah Elstein, Roberto Giugliani, Joseph Muenzer, et al.
Cells, Tissues, Organs|July 23, 2011
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cellsGuilherme Baldo, Fabiana Quoos Mayer, Maira Burin, et al.
Ciencia & Saude Coletiva|February 20, 2010
[Is there an association between cancer mortality and agrotoxics use? A contribution to the debate]Paulo Fernandes Costa Jobim, Luciana Neves Nunes, Roberto Giugliani, et al.
Arquivos Brasileiros De Oftalmologia|September 5, 2007
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report]Diane Marinho, Ana Cecilia Mano Azevedo, Samuel Rymer, et al.
Orphanet Journal of Rare Diseases|May 6, 2025
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping reviewRoberto Giugliani, Faryn Solomon, Hani Kushlaf, et al.
Pediatrics|February 5, 2008
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)Rick Martin, Michael Beck, Christine Eng, et al.
Molecular Genetics and Metabolism|June 20, 2021
MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidosesLuís Dias Ferreira Soares, Gerda Cristal Villalba Silva, Francyne Kubaski, et al.
Molecular Genetics and Metabolism|March 30, 2013
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)Simon A Jones, Rossella Parini, Paul Harmatz, et al.
Pageof 49

Showing results (71-80 of 482) with videos related to

Sort By:
Pageof 49
Orphanet Journal of Rare Diseases|October 31, 2021
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)Joseph Muenzer, Jaco Botha, Paul Harmatz, et al.
Gene|October 11, 2012
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosisFernanda Sperb, Filippo Vairo, Maira Burin, et al.
Molecular Genetics and Metabolism Reports|August 9, 2021
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registriesDeborah Elstein, Roberto Giugliani, Joseph Muenzer, et al.
Cells, Tissues, Organs|July 23, 2011
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cellsGuilherme Baldo, Fabiana Quoos Mayer, Maira Burin, et al.
Ciencia & Saude Coletiva|February 20, 2010
[Is there an association between cancer mortality and agrotoxics use? A contribution to the debate]Paulo Fernandes Costa Jobim, Luciana Neves Nunes, Roberto Giugliani, et al.
Arquivos Brasileiros De Oftalmologia|September 5, 2007
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report]Diane Marinho, Ana Cecilia Mano Azevedo, Samuel Rymer, et al.
Orphanet Journal of Rare Diseases|May 6, 2025
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping reviewRoberto Giugliani, Faryn Solomon, Hani Kushlaf, et al.
Pediatrics|February 5, 2008
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)Rick Martin, Michael Beck, Christine Eng, et al.
Molecular Genetics and Metabolism|June 20, 2021
MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidosesLuís Dias Ferreira Soares, Gerda Cristal Villalba Silva, Francyne Kubaski, et al.
Molecular Genetics and Metabolism|March 30, 2013
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)Simon A Jones, Rossella Parini, Paul Harmatz, et al.
Pageof 49