Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

by Rossella Parini, Federica Deodato
Published 2020-04-01

Enzyme replacement therapy: efficacy and limitations

by Daniela Concolino, Federica Deodato, Rossella Parini
Published 2018-11-01

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

by Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici
Published 2016-03-01

Open issues in Mucopolysaccharidosis type I-Hurler

by Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Published 2017-06-01

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

by Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
Published 2021-01-01

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

by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Published 2018-10-01

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

by Matteo Paoletti, Anna Pichiecchio, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Fabio Maria Triulzi, Claudia Cinnante
Published 2020-11-01

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

by Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
Published 2019-05-01

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

by Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
Published 2018-02-01

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

by Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Published 2021-06-01

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

by Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia V. Russo, Maja Di Rocco, Antonio Toscano, Maurizio Scarpa, Bruno Bembi
Published 2020-03-01