Lady talking

News and Education

Newborn Screening for Lysosomal Disorders

This article reviews the current state of newborn screening for lysosomal storage disorders.  These disorders include Pompe disease, Niemann–Pick type A/B disease, Fabry disease, Krabbe disease, Mucopolysaccharidoses types I and II, and Gaucher disease.
 
Title: Newborn screening for lysosomal storage disorders
Author(s): Dietrich Matern, MD, PhD, Dimitar Gavrilov, MD, PhD, Devin Oglesbee, PhD, Kimiyo Raymond, MD, Piero Rinaldo, MD, PhD, Silvia Tortorelli, MD, PhD
Date: April 16, 2015
Link: http://www.sciencedirect.com/science/article/pii/S0146000515000221