The new frame for Mucopolysaccharidoses

por Parini, Rossella, Biondi, Andrea
Publicado 2018

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

por Parini, Rossella, Deodato, Federica
Publicado 2020

Enzyme replacement therapy: efficacy and limitations

por Concolino, Daniela, Deodato, Federica, Parini, Rossella
Publicado 2018

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

por Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
Publicado 2017

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

por Cattoni, Alessandro, Chiaraluce, Sofia, Gasperini, Serena, Molinari, Silvia, Biondi, Andrea, Rovelli, Attilio, Parini, Rossella
Publicado 2021

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases

por Grioni, Daniele, Landi, Andrea, Gasperini, Serena, Trezza, Andrea, Fiori, Leonardo, Rigoldi, Miriam, Parini, Rossella, Sganzerla, Erik Pietro
Publicado 2015

Open issues in Mucopolysaccharidosis type I-Hurler

por Parini, Rossella, Deodato, Federica, Di Rocco, Maja, Lanino, Edoardo, Locatelli, Franco, Messina, Chiara, Rovelli, Attilio, Scarpa, Maurizio
Publicado 2017

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y

por Jones, Simon A., Bialer, Martin, Parini, Rossella, Martin, Ken, Wang, Hui, Yang, Ke, Shaywitz, Adam J., Harmatz, Paul
Publicado 2015

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

por Kalkum, Gisela, Pitz, Susanne, Karabul, Nesrin, Beck, Michael, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Bizjajeva, Svetlana, Ramaswami, Uma
Publicado 2016

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 Age

por Parini, Rossella, Pintos-Morell, Guillem, Hennermann, Julia B, Hsu, Ting-Rong, Karabul, Nesrin, Kalampoki, Vasiliki, Gurevich, Andrey, Ramaswami, Uma
Publicado 2020

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

por Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia
Publicado 2018

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

por Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, Pession, Andrea
Publicado 2022

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

por Ramaswami, Uma, Stull, Donald E, Parini, Rossella, Pintos-Morell, Guillem, Whybra, Catharina, Kalkum, Gisela, Rohrbach, Marianne, Raluy-Callado, Mireia, Beck, Michael, Chen, Wen-Hung, Wiklund, Ingela
Publicado 2012

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

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

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

por 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
Publicado 2014

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

por Tylki‐Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio
Publicado 2018

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

por Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří
Publicado 2018

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

por Cavicchi, Catia, Donati, Maria Alice, Parini, Rossella, Rigoldi, Miriam, Bernardi, Mauro, Orfei, Francesca, Gentiloni Silveri, Nicolò, Colasante, Aniello, Funghini, Silvia, Catarzi, Serena, Pasquini, Elisabetta, la Marca, Giancarlo, Mooney, Sean David, Guerrini, Renzo, Morrone, Amelia
Publicado 2014

Multicenter, non-interventional, double cohort study to assess the safety of alglucosidase alfa and laronidase in real-world home infusion setting

por Toscano, Antonio, Scarpa, Maurizio, Parini, Rossella, Donati, Alice, Crescimanno, Grazia, Fiumara, Agata, Fischetto, Rita, Gasperini, Serena, Siciliano, Gabriele, Ravaglia, Sabrina, Sechi, Annalisa, Piperno, Alberto, Cianci, Vittorio, Maggi, Lorenzo, Musumeci, Olimpia, Taurisano, Roberta, Verrecchia, Elena
Publicado 2022

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...

por Toscano, Antonio, Musumeci, Olimpia, Sacchini, Michele, Ravaglia, Sabrina, Siciliano, Gabriele, Fiumara, Agata, Verrecchia, Elena, Maione, Melania, Gentile, Jennifer, Fischetto, Rita, Crescimanno, Grazia, Taurisano, Roberta, Sechi, Annalisa, Gasperini, Serena, Cianci, Vittoria, Maggi, Lorenzo, Parini, Rossella, Lupica, Antonino, Scarpa, Maurizio
Publicado 2023