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

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

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

por Gulisano, Mariangela, Barone, Rita, Alaimo, Salvatore, Ferro, Alfredo, Pulvirenti, Alfredo, Cirnigliaro, Lara, Di Silvestre, Selena, Martellino, Serena, Maugeri, Nicoletta, Milana, Maria Chiara, Scerbo, Miriam, Rizzo, Renata
Publicado 2020