Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

• मुख्य लेखकों: Patricia L. Hall (लेखक), Rossana Sanchez (लेखक), Arthur F. Hagar (लेखक), S. Caleb Jerris (लेखक), Angela Wittenauer (लेखक), William R. Wilcox (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2020-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of tes...