Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for FD by α-galactosidase A activity and globotriaosyls...

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Bibliographic Details
Main Authors: Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Biomolecules
Subjects:
Fabry disease
newborn screening
variant interpretation
second tier test
tandem mass spectrometry
lyso-Gb<sub>3</sub>
Online Access:https://www.mdpi.com/2218-273X/11/7/951

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https://www.mdpi.com/2218-273X/11/7/951

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