Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

by Rossella Parini, Federica Deodato
Published 2020-04-01

The new frame for Mucopolysaccharidoses

by Rossella Parini, Andrea Biondi
Published 2018-11-01

Molecular basis, diagnosis and clinical management of mucopolysaccharidoses

by Rossella Parini, Francesca Bertola, Pierluigi Russo
Published 2013-02-01

Enzyme replacement therapy: efficacy and limitations

by Daniela Concolino, Federica Deodato, Rossella Parini
Published 2018-11-01

“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”

by Alessandro Cattoni, Sofia Chiaraluce, Serena Gasperini, Silvia Molinari, Andrea Biondi, Attilio Rovelli, Rossella Parini
Published 2021-09-01

Open issues in Mucopolysaccharidosis type I-Hurler

by Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Published 2017-06-01

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

by Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano, Gaia Roversi
Published 2018-09-01

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism

by Daniele Grioni MD, Andrea Landi MD, Serena Gasperini MD, Andrea Trezza MD, Leonardo Fiori MD, Miriam Rigoldi MD, Rossella Parini MD, Erik Pietro Sganzerla MD
Published 2015-10-01

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Published 2018-10-01

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
Published 2018-11-01

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

by Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
Published 2018-02-01

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

by Rossella Parini, Miriam Rigoldi, Lucia Tedesco, Lucia Boffi, Alessandra Brambilla, Sara Bertoletti, Agata Boncimino, Alessandra Del Longo, Paola De Lorenzo, Renato Gaini, Denise Gallone, Serena Gasperini, Carlo Giussani, Marco Grimaldi, Daniele Grioni, Pamela Meregalli, Grazia Messinesi, Francesca Nichelli, Marco Romagnoli, Pierluigi Russo, Erik Sganzerla, Grazia Valsecchi, Andrea Biondi
Published 2015-06-01

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

by Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg
Published 2019-01-01