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

Article ID	Journal	Published Year	Pages	File Type
8314354	Clinica Chimica Acta	2012	5 Pages	PDF

Abstract

âº We performed the first newborn screening for 4 lysosomal storage disorders in Italy. âº The screening was performed using enzymatic assay on Dry Blood Spot on filter paper. âº One newborn showed a reduction of beta-glucosidase activity. âº The sequence variation E388K on GBA was identified and characterized.

Keywords

DBS LSD GBA enzyme replacement therapy Lysosomal storage disease dried blood spots ERT

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

Preview

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

Authors

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,