Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and re...

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Bibliographic Details
Main Authors: Elizabeth G. Ames, Rachel Fisher, Mary Kleyn, Ayesha Ahmad
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:https://www.mdpi.com/2409-515X/6/3/72