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

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

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...

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Bibliographic Details
Main Authors: Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:International Journal of Neonatal Screening
Subjects:
mucopolysaccharidosis type I
expanded newborn screening
lysosomal disorders
second-tier test
tandem mass spectrometry
α-L-iduronidase
Online Access:https://www.mdpi.com/2409-515X/6/4/85

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https://www.mdpi.com/2409-515X/6/4/85

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