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

• Main Authors: Vincenza Gragnaniello (Author), Chiara Cazzorla (Author), Daniela Gueraldi (Author), Andrea Puma (Author), Christian Loro (Author), Elena Porcù (Author), Maria Stornaiuolo (Author), Paolo Miglioranza (Author), Leonardo Salviati (Author), Alessandro P. Burlina (Author), Alberto B. Burlina (Author)
• Format: Book
• Published: MDPI AG, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...