The First Year Experience of Newborn Screening for Pompe Disease in California

The First Year Experience of Newborn Screening for Pompe Disease in California

The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: 1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, 2) <i>GAA</i> gene sequencing analysis. This study examines results from t...

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Bibliographic Details
Main Authors: Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:International Journal of Neonatal Screening
Subjects:
pompe disease
newborn screening
california
Online Access:https://www.mdpi.com/2409-515X/6/1/9

Internet

https://www.mdpi.com/2409-515X/6/1/9

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