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

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

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children

por Galeotti, Angela, De Rosa, Sara, Uomo, Roberto, Dionisi-Vici, Carlo, Deodato, Federica, Taurisano, Roberta, Olivieri, Giorgia, Festa, Paola
Publicado 2020

Administration of palmitoylethanolamide in combination with topiramate in the preventive treatment of nummular headache

por Chirchiglia, Domenico, Della Torre, Attilio, Signorelli, Francesco, Volpentesta, Giorgio, Guzzi, Giusy, Stroscio, Carmelino Angelo, Deodato, Federica, Gabriele, Donatella, Lavano, Angelo
Publicado 2016

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

por Semeraro, Michela, Sacchetti, Elisa, Deodato, Federica, Coşkun, Turgay, Lay, Incilay, Catesini, Giulio, Olivieri, Giorgia, Rizzo, Cristiano, Boenzi, Sara, Dionisi-Vici, Carlo
Publicado 2021

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

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

por Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia
Publicado 2020

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

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

por Gragnaniello, Vincenza, Deodato, Federica, Gasperini, Serena, Donati, Maria Alice, Canessa, Clementina, Fecarotta, Simona, Pascarella, Antonia, Spadaro, Giuseppe, Concolino, Daniela, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Fiumara, Agata, Casa, Roberto Della
Publicado 2022

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

por Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Publicado 2019

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease

por Squeri, Giorgia, Passerini, Laura, Ferro, Francesca, Laudisa, Cecilia, Tomasoni, Daniela, Deodato, Federica, Donati, Maria Alice, Gasperini, Serena, Aiuti, Alessandro, Bernardo, Maria Ester, Gentner, Bernhard, Naldini, Luigi, Annoni, Andrea, Biffi, Alessandra, Gregori, Silvia
Publicado 2019

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

por Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia
Publicado 2019

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

por Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, Bembi, Bruno
Publicado 2018

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine
Publicado 2020

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

por Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, Dali, Christine í
Publicado 2021

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

por Dardis, Andrea, Zampieri, Stefania, Gellera, Cinzia, Carrozzo, Rosalba, Cattarossi, Silvia, Peruzzo, Paolo, Dariol, Rosalia, Sechi, Annalisa, Deodato, Federica, Caccia, Claudio, Verrigni, Daniela, Gasperini, Serena, Fiumara, Agata, Fecarotta, Simona, Carecchio, Miryam, Filosto, Massimiliano, Santoro, Lucia, Borroni, Barbara, Bordugo, Andrea, Brancati, Francesco, Russo, Cinzia V., Di Rocco, Maja, Toscano, Antonio, Scarpa, Maurizio, Bembi, Bruno
Publicado 2020

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

por Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
Publicado 2015

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

por Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari
Publicado 2019

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment...

por Mengel, Eugen, Patterson, Marc C., Da Riol, Rosalia M., Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Havnsøe Torp Petersen, Nikolaj, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, í Dali, Christine
Publicado 2021