Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

por Parini, Rossella, Deodato, Federica
Publicado no Int J Mol Sci (2020)

Enzyme replacement therapy: efficacy and limitations

por Concolino, Daniela, Deodato, Federica, Parini, Rossella
Publicado no Ital J Pediatr (2018)

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

por Boenzi, Sara, Deodato, Federica, Taurisano, Roberta, Goffredo, Bianca Maria, Rizzo, Cristiano, Dionisi-Vici, Carlo
Publicado no J Lipid Res (2016)

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 no Orphanet J Rare Dis (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 no Orphanet J Rare Dis (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 no Int Med Case Rep J (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 no Orphanet J Rare Dis (2021)

Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

por Pasquini, Luca, Guarnera, Alessia, Rossi-Espagnet, Maria Camilla, Napolitano, Antonio, Martinelli, Diego, Deodato, Federica, Diodato, Daria, Carrozzo, Rosalba, Dionisi-Vici, Carlo, Longo, Daniela
Publicado no Neuroradiology (2020)

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 no Front Neurol (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 no BMC Med Genet (2018)

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 no BMC Med Genet (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 no Mol Ther (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 no Sci Rep (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 no Orphanet J Rare Dis (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 no Orphanet J Rare Dis (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 no Orphanet J Rare Dis (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 no J Clin Med (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 no Orphanet J Rare Dis (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 no Intern Med J (2019)