Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years
Tomanin, Rosella, Zanetti, Alessandra, D'Avanzo, Francesca, Rampazzo, Angelica, Gasparotto, Nicoletta, Parini, Rossella, Pascarella, Antonia, Concolino, Daniela, Procopio, Elena, Fiumara, Agata, Borgo, Andrea, Frigo, Anna Chiara, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (18.09.2014)
Published in Orphanet journal of rare diseases (18.09.2014)
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Journal Article
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution
Manara, Renzo, Rampazzo, Angelica, Cananzi, Mara, Salviati, Leonardo, Mardari, Rodica, Drigo, Paola, Tomanin, Rosella, Gasparotto, Nicoletta, Priante, Elena, Scarpa, Maurizio
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots
Gasparotto, Nicoletta, Tomanin, Rosella, Frigo, Anna Chiara, Niizawa, Gabriela, Pasquini, Elisabetta, Blanco, Mariana, Donati, Maria Alice, Keutzer, Joan, Zacchello, Franco, Scarpa, Maurizio
Published in Clinica chimica acta (01.04.2009)
Published in Clinica chimica acta (01.04.2009)
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Journal Article
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
Zanetti, Alessandra, Tomanin, Rosella, Rampazzo, Angelica, Rigon, Chiara, Gasparotto, Nicoletta, Cassina, Matteo, Clementi, Maurizio, Scarpa, Maurizio
Published in JIMD Reports, Volume 17 (01.01.2014)
Published in JIMD Reports, Volume 17 (01.01.2014)
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Book Chapter
Journal Article
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts
Friso, Adelaide, Tomanin, Rosella, Alba, Sabrina, Gasparotto, Nicoletta, Puicher, Elisabetta Piller, Fusco, Mariella, Hortelano, Gonzalo, Muenzer, Joseph, Marin, Oriano, Zacchello, Franco, Scarpa, Maurizio
Published in The journal of gene medicine (01.11.2005)
Published in The journal of gene medicine (01.11.2005)
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Journal Article