Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

por Nasca, Alessia, Nardecchia, Francesca, Commone, Anna, Semeraro, Michela, Legati, Andrea, Garavaglia, Barbara, Ghezzi, Daniele, Leuzzi, Vincenzo
Publicado 2018

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

por Tagliaferri, Francesco, Massese, Miriam, Russo, Luisa, Commone, Anna, Gasperini, Serena, Pretese, Roberta, Dionisi-Vici, Carlo, Maiorana, Arianna
Publicado 2022

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

por Gragnaniello, Vincenza, Rizzardi, Caterina, Commone, Anna, Gueraldi, Daniela, Maines, Evelina, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B.
Publicado 2023

Newborn Screening for Fabry Disease: Current Status of Knowledge

por Gragnaniello, Vincenza, Burlina, Alessandro P., Commone, Anna, Gueraldi, Daniela, Puma, Andrea, Porcù, Elena, Stornaiuolo, Maria, Cazzorla, Chiara, Burlina, Alberto B.
Publicado 2023

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

por Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Cazzorla, Chiara, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Wanders, Ronald J. A., Burlina, Alberto
Publicado 2023