First years of experience on LSD screening in Italy, Padova
Giulia Polo is lab supervisor at the Regional Center for Expanded Neonatal Screening, University Hospital of Padova, Italy discusses her experiences with screening for lysosomal storage diseases (LSDs) in newborns.
Activities of acid β-glucocerebrosidase (ABG; Gaucher), acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), and acid α-Liduronidase (IDUA; MPS-I) in dried blood spots (DBS) from all newborns during a 31-month period were determined by multiplexed tandem mass spectrometry (MS/MS) using the NeoLSD® assay system.
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