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

• Main Authors: Hao Tang (Author), Lisa Feuchtbaum (Author), Stanley Sciortino (Author), Jamie Matteson (Author), Deepika Mathur (Author), Tracey Bishop (Author), Richard S. Olney (Author)
• Format: Book
• Published: MDPI AG, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...