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

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

by Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
Published 2018-11-01