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7. 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. Paciotti S; Persichetti E; Pagliardini S; Deganuto M; Rosano C; Balducci C; Codini M; Filocamo M; Menghini AR; Pagliardini V; Pasqui S; Bembi B; Dardis A; Beccari T Clin Chim Acta; 2012 Nov; 413(23-24):1827-31. PubMed ID: 22820396 [TBL] [Abstract][Full Text] [Related]
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