Article
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.
Clinica chimica acta; international journal of clinical chemistry - 20 Nov 2012
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
Abstract excerpt
We report the first newborn screening pilot study in an Italian region for four lysosomal disorders including Pompe disease, Gaucher disease, Fabry disease and mucopolysaccharidosis type 1. The screening has been performed using enzymatic assay on Dry Blood Spot on filter paper. A total of 3403 newborns were screened. One newborn showed a reduction of β-glucosidase activity in leucocytes. Molecular analysis...
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