Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

• Main Authors: Vincenza Gragnaniello (Author), Daniela Gueraldi (Author), Laura Rubert (Author), Francesca Manzoni (Author), Chiara Cazzorla (Author), Antonella Giuliani (Author), Giulia Polo (Author), Leonardo Salviati (Author), Alberto Burlina (Author)
• Format: Book
• Published: MDPI AG, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 years of experience with laboratory and clinical mana...