Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and chal...

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Bibliographic Details
Main Authors: Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
lysosomal storage disease
Pompe disease
mucopolysaccharidosis type I
Gaucher disease
Fabry disease
Online Access:https://www.mdpi.com/2409-515X/10/1/3

Internet

https://www.mdpi.com/2409-515X/10/1/3

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