The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease

• المؤلفون الرئيسيون: Monica M. Martin (مؤلف), Ryan Wilson (مؤلف), Michele Caggana (مؤلف), Joseph J. Orsini (مؤلف)
• التنسيق: كتاب
• منشور في: MDPI AG, 2020-08-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

New York uses a two-tier assay to screen newborns for Krabbe disease and Pompe disease. Individual enzyme activities are measured in the first-tier, and specimens from newborns with low activity are reflexed to second tier Sanger sequencing of the associated gene. Using only this two-tiered approach...