The new frame for Mucopolysaccharidoses by Rossella Parini, Andrea Biondi

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Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations by Rossella Parini, Federica Deodato

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Enzyme replacement therapy: efficacy and limitations by Daniela Concolino, Federica Deodato, Rossella Parini

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Molecular basis, diagnosis and clinical management of mucopolysaccharidoses by Rossella Parini, Francesca Bertola, Pierluigi Russo

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“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

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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

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Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities by Federico Baronio, Stefano Zucchini, Francesco Zulian, Mariacarolina Salerno, Rossella Parini, Alessandro Cattoni, Federica Deodato, Alberto Gaeta, Carla Bizzarri, Serena Gasperini, Andrea Pession

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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

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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

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Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 a... by Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa

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Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation by Mieke Aldenhoven, Brigitte T.A. van den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. van Hasselt, Marleen Renard, Victoria Bordon, Tom J. de Koning, Jaap Jan Boelens

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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

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P1392: INTERIM ANALYSIS OF FIRST IN HUMAN PHASE I-II CLINICAL TRIAL OF EX-VIVO GENE THERAPY FOR HURLER SYNDROME: AN UPDATE AT 3 YEAR FOLLOW-UP by Francesca Tucci, Giulia Consiglieri, Chiara Filisetti, Maurizio De Pellegrin, Renata Mellone, Francesca Fumagalli, Silvia Darin, Marina Sarzana, Stefano Scarparo, Francesca Ciotti, Paolo Silvani, Cristina Baldoli, Silvia Pontesilli, Rossella Parini, Giancarlo la Marca, Fabio Ciceri, Luigi Naldini, Alessandro Aiuti, Bernhard Gentner, Maria Ester Bernardo

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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

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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

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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

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

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