檢索結果 - Parini, Rossella

The new frame for Mucopolysaccharidoses 由 Parini, Rossella, Biondi, Andrea

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

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

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Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III 由 Brambilla, Alessandra, Mannarino, Savina, Pretese, Roberta, Gasperini, Serena, Galimberti, Cinzia, Parini, Rossella

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Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome) 由 Quartel, Adrian, Hendriksz, Christian J., Parini, Rossella, Graham, Sue, Lin, Ping, Harmatz, Paul

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Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) 由 Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella

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“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients” 由 Cattoni, Alessandro, Chiaraluce, Sofia, Gasperini, Serena, Molinari, Silvia, Biondi, Andrea, Rovelli, Attilio, Parini, Rossella

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

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Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases 由 Grioni, Daniele, Landi, Andrea, Gasperini, Serena, Trezza, Andrea, Fiori, Leonardo, Rigoldi, Miriam, Parini, Rossella, Sganzerla, Erik Pietro

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Open issues in Mucopolysaccharidosis type I-Hurler 由 Parini, Rossella, Deodato, Federica, Di Rocco, Maja, Lanino, Edoardo, Locatelli, Franco, Messina, Chiara, Rovelli, Attilio, Scarpa, Maurizio

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Paediatric Fabry disease: prognostic significance of ocular changes for disease severity 由 Kalkum, Gisela, Pitz, Susanne, Karabul, Nesrin, Beck, Michael, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Bizjajeva, Svetlana, Ramaswami, Uma

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

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Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features 由 Parazzini, Cecilia, Arena, Saverio, Marchetti, Lucrezia, Menni, Francesca, Filocamo, Mirella, Verheijen, Frans W., Mancini, Grazia M.S., Triulzi, Fabio, Parini, Rossella

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Functional analysis of 11 novel GBA alleles 由 Malini, Erika, Grossi, Serena, Deganuto, Marta, Rosano, Camillo, Parini, Rossella, Dominisini, Silvia, Cariati, Roberta, Zampieri, Stefania, Bembi, Bruno, Filocamo, Mirella, Dardis, Andrea

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Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases 由 Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia

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

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Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib 由 Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo

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Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance 由 Ferri, Lorenzo, Caciotti, Anna, Cavicchi, Catia, Rigoldi, Miriam, Parini, Rossella, Caserta, Marina, Chibbaro, Guido, Gasperini, Serena, Procopio, Elena, Donati, Maria Alice, Guerrini, Renzo, Morrone, Amelia

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

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

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