Article

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

2023-11-10

Abstract excerpt

In the last two decades, the development of high-throughput diagnostic methods and availabil-ity of effective treatments has increased interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow up on about 250,000 neonates screened for four lysosomal stor...

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Literature Corpus work: da3b32ca-f5d2-564d-9500-64a086dff638
DOI: 10.20944/preprints202311.0727.v1

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