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

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

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

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

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

by 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
Published 2012

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

by 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 2014

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

by Hendriksz, Christian J., Berger, Kenneth I., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Matousek, Robert, Jurecki, Elaina, Decker, Celeste, Harmatz, Paul R.
Published 2016

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

by 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
Published 2014

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates...

by Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Parenti, Giancarlo, Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, Ans, Andria, Generoso, Brunetti-Pierri, Nicola, Auricchio, Alberto
Published 2015

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

by de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published 2011

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

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

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

by Biegstraaten, Marieke, Arngrímsson, Reynir, Barbey, Frederic, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, van de Mheen, Erica, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter, Hollak, Carla EM
Published 2015