Search Results - PARINI, Rosella

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  1. 1
    Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey

    Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey by RAMASWAMI, Uma, WHYBRA, Catharina, PARINI, Rosella, PINTOS-MORELL, Guillem, MEHTA, Atul, SUNDER-PLASSMANN, Gere, WIDMER, Urs, BECK, Michael

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  2. 2
    Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

    Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease by Hollak, Carla E.M., vom Dahl, Stephan, Aerts, Johannes M.F.G., Belmatoug, Nadia, Bembi, Bruno, Cohen, Yossi, Collin-Histed, Tanya, Deegan, Patrick, van Dussen, Laura, Giraldo, Pilar, Mengel, Eugen, Michelakakis, Helen, Manuel, Jeremy, Hrebicek, Martin, Parini, Rosella, Reinke, Jörg, di Rocco, Maja, Pocovi, Miguel, Sa Miranda, Maria Clara, Tylki-Szymanska, Anna, Zimran, Ari, Cox, Timothy M.

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  3. 3
    Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire

    Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire by Ramaswami, Uma, Whybra, Catharina, Kalkum, Gisela, Morell, Guillem Pintos, Parini, Rosella, Rohrbach, Marianne, Wiklund, Ingela, Raluy, Mireia, Beck, Michael, Stull, Donald

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  4. 4
    Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

    Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey by Ramaswami, Uma, Whybra, Catharina, Parini, Rosella, Pintos-Morell, Guillem, Mehta, Atul, Sunder-Plassmann, Gere, Widmer, Urs, Beck, Michael

    Published in Acta Paediatrica
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  5. 5
    Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years

    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

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  6. 6
    Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

    Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism by Zanetti, Alessandra, Ferraresi, Elena, Picci, Luigi, Filocamo, Mirella, Parini, Rossella, Rosano, Camillo, Tomanin, Rosella, Scarpa, Maurizio

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  7. 7
    Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

    Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease by Natale, Paola Di, Villani, Guglielmo R. D., Parini, Rossella, Scarpa, Maurizio, Parenti, Giancarlo, Pontarelli, Gianfranco, Grosso, Michela, Sersale, Giovanna, Tomanin, Rosella, Sibilio, Michelina, Barone, Rita, Fiumara, Agata

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  8. 8
    Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

    Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c by Galli, Lucia, Orrico, Alfredo, Marcolongo, Paola, Fulceri, Rosella, Burchell, Ann, Melis, Daniela, Parini, Rossella, Gatti, Rosanna, Lam, Ching-Wan, Benedetti, Angelo, Sorrentino, Vincenzo

    Published in FEBS letters
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