Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

Autor: Caciotti, Anna, Melani, Federico, Tonin, Rodolfo, Cellai, Lucrezia, Catarzi, Serena, Procopio, Elena, Chilleri, Chiara, Mavridou, Irene, Michelakakis, Helen, Fioravanti, Antonella, d’Azzo, Alessandra, Guerrini, Renzo, Morrone, Amelia
Zdroj: In Molecular Genetics and Metabolism February 2020 129(2):47-58
Databáze: ScienceDirect