First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene
Titel:
First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene
Auteur:
Paciotti, Silvia Persichetti, Emanuele Pagliardini, Severo Deganuto, Marta Rosano, Camillo Balducci, Chiara Codini, Michela Filocamo, Mirella Menghini, Anna Rita Pagliardini, Veronica Pasqui, Silvio Bembi, Bruno Dardis, Andrea Beccari, Tommaso