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

Silvia Paciotti, Emanuele Persichetti, Severo Pagliardini, Marta Deganuto, Camillo Rosano, Chiara Balducci, Michela Codini, Mirella Filocamo, Anna Rita Menghini, Veronica Pagliardini, Silvio Pasqui, Bruno Bembi, Andrea Dardis, Tommaso Beccari

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