Enzyme replacement therapy (ERT) in pompe disease

por Fiumara, Agata
Publicado 2014

Epilepsy in patients with Angelman syndrome

por Fiumara, Agata, Pittalà, Annarita, Cocuzza, Mariadonatella, Sorge, Giovanni
Publicado 2010

Mucopolysaccharidoses: early diagnostic signs in infants and children

por Galimberti, Cinzia, Madeo, Annalisa, Di Rocco, Maja, Fiumara, Agata
Publicado 2018

Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic

por Fiumara, Agata, Lanzafame, Giuseppina, Sapuppo, Annamaria, Arena, Alessia, Cirnigliaro, Lara, Barone, Rita
Publicado 2023

Remote Ultrasound Scan Procedures with Medical Robots: Towards New Perspectives between Medicine and Engineering

por Bucolo, Maide, Bucolo, Gea, Buscarino, Arturo, Fiumara, Agata, Fortuna, Luigi, Gagliano, Salvina
Publicado 2022

Quantitative analysis of upright standing in adults with late-onset Pompe disease

por Valle, Maria Stella, Casabona, Antonino, Fiumara, Agata, Castiglione, Dora, Sorge, Giovanni, Cioni, Matteo
Publicado 2016

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype

por Sapuppo, Annamaria, Pavone, Piero, Praticò, Andrea Domenico, Ruggieri, Martino, Bertino, Gaetano, Fiumara, Agata
Publicado 2020

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on...

por Messina, MariaAnna, Arena, Alessia, Fiumara, Agata, Iacobacci, Riccardo, Meli, Concetta, Raudino, Federica
Publicado 2020

Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report

por Giuffrida, Gaetano, Lombardo, Rita, Di Francesco, Ernesto, Parrinello, Laura, Di Raimondo, Francesco, Fiumara, Agata
Publicado 2016

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

por Fiumara, Agata, Lanzafame, Giuseppina, Arena, Alessia, Sapuppo, Annamaria, Raudino, Federica, Praticò, Andrea, Pavone, Piero, Barone, Rita
Publicado 2020

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

por Pappalardo, Maria Grazia, Di Nora, Alessandra, Giugno, Andrea, Meli, Concetta, Sapuppo, Annamaria, Pavone, Piero, Fiumara, Agata
Publicado 2022

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study

por Cantone, Mariagiovanna, Lanza, Giuseppe, Le Pira, Alice, Barone, Rita, Pennisi, Giovanni, Bella, Rita, Pennisi, Manuela, Fiumara, Agata
Publicado 2019

Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus

por Cucuzza, Maria Elena, Mendola, Flavia La, D’Ambra, Angela, Smilari, Pierluigi, Greco, Filippo, Fiumara, Agata, Praticò, Andrea D
Publicado 2018

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

por Zampieri, Stefania, Cattarossi, Silvia, Pavan, Eleonora, Barbato, Antonio, Fiumara, Agata, Peruzzo, Paolo, Scarpa, Maurizio, Ciana, Giovanni, Dardis, Andrea
Publicado 2021

Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients

por Venti, Valeria, Consentino, Maria Chiara, Smilari, Pierluigi, Greco, Filippo, Oliva, Claudia Francesca, Fiumara, Agata, Falsaperla, Raffaele, Ruggieri, Martino, Pavone, Piero
Publicado 2021

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

por Barone, Rita, Fiumara, Agata, Gulisano, Mariangela, Cirnigliaro, Lara, Cocuzza, Maria Donatella, Guida, Claudia, Pettinato, Fabio, Greco, Filippo, Elia, Maurizio, Rizzo, Renata
Publicado 2021

COG6‐CDG: Novel variants and novel malformation

por Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita
Publicado 2022

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

por Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, Francesco, Fiumara, Agata, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea
Publicado 2023

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

por Tendi, Elisabetta Anna, Morello, Giovanna, Guarnaccia, Maria, La Cognata, Valentina, Petralia, Salvatore, Messina, Maria Anna, Meli, Concetta, Fiumara, Agata, Ruggieri, Martino, Cavallaro, Sebastiano
Publicado 2023

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

por Messina, MariaAnna, Meli, Concetta, Raudino, Federica, Pittalá, Annarita, Arena, Alessia, Barone, Rita, Giuffrida, Fortunata, Iacobacci, Riccardo, Muccilli, Vera, Sorge, Giovanni, Fiumara, Agata
Publicado 2018