Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders—mucopolysaccharidosis type I...

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Bibliographic Details
Main Authors: Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina
Format: Article
Language:English
Published: MDPI AG 2019-06-01
Series:International Journal of Neonatal Screening
Subjects:
lysosomal expanded newborn screening
Pompe disease
Fabry disease
Gaucher disease
MPS I
biomarkers
second-tier test
GAGs
lysoGb1
lysoGb3
Online Access:https://www.mdpi.com/2409-515X/5/2/24

Internet

https://www.mdpi.com/2409-515X/5/2/24

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