Search Results - "Annalisa Scopinaro"

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations by Serra, Gregorio, Memo, Luigi, Coscia, Alessandra, Giuffré, Mario, Iuculano, Ambra, Lanna, Mariano, Valentini, Diletta, Contardi, Anna, Filippeschi, Sauro, Frusca, Tiziana, Mosca, Fabio, Ramenghi, Luca A, Romano, Corrado, Scopinaro, Annalisa, Villani, Alberto, Zampino, Giuseppe, Corsello, Giovanni

“…Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60…”
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Price and reimbursement for orphan medicines and managed entry agreements: does Italy need a framework? by Jommi, Claudio, Addis, Antonio, Martini, Nello, Nicod, Elena, Pani, Marcello, Scopinaro, Annalisa, Vogler, Sabine

“…This article illustrates a consensus opinion of an expert panel on the need and usefulness of a framework for price and reimbursement (P&R) process and managed…”
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Epidemiology, Characteristics of Disease, and Unmet Needs of Patients with Generalized Pustular Psoriasis: A Large Italian Delphi Consensus by Prignano, Francesca, Atzori, Laura, Bellinato, Francesco, Damiani, Giovanni, Galeone, Carlotta, Mariani, Paolo, Potenza, Concetta, Scopinaro, Annalisa, Piaserico, Stefano, Fabbrocini, Gabriella

“…Generalized pustular psoriasis (GPP) is a rare and chronic, debilitating skin condition characterized, in its acute flare phase, by clinically severe and…”
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Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus by Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, Cappellini, Maria Domenica

“…Acid sphingomyelinase deficiency (ASMD) is an ultra-rare disease, and several gaps of knowledge on various issues remain, particularly at a regional/national…”
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Percorso diagnostico-terapeutico e modello organizzativo per l’erogazione della terapia genica nelle distrofie retiniche ereditarie in real-life by Francesco Bandello, Maurizio Battaglia Parodi, Leonardo Colombo, Fabrizio Giansanti, Marcello Pani, Francesco Parmeggiani, Ugo Procoli, Stanislao Rizzo, Annalisa Scopinaro, Andrea Sodi, Annamaria Staiano, Giovanni Staurenghi, Francesca Simonelli

“…Background: Leber congenital amaurosis is the first form of inherited retinal dystrophy (IRD) treated with a gene therapy approach using voretigene neparvovec…”
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Diagnostic-therapeutic pathway and organizational model for gene therapy in the administration of congenital retinal dystrophies in real-life by Bandello, Francesco, Battaglia Parodi, Maurizio, Colombo, Leonardo, Giansanti, Fabrizio, Mennini, Francesco Saverio, Pani, Marcello, Parmeggiani, Francesco, Procoli, Ugo, Rizzo, Stanislao, Scopinaro, Annalisa, Sodi, Andrea, Staiano, Annamaria, Staurenghi, Giovanni, Trama, Ugo, Simonelli, Francesca

“…Background: Leber congenital amaurosis is the first form of inherited retinal dystrophy (IRD) treated with a gene therapy approach using voretigene neparvovec…”
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The line between COVID-19 pandemic and rare bone diseases by Sangiorgi, Luca, Brizola, Evelise

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