Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833182 | Molecular Genetics and Metabolism | 2013 | 4 Pages |
Abstract
α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at â 20 °C. At room temperature, α-AASA and P6C in DBS appeared stable for 3 days and then decreased by up to 70% after 14 days but remained much higher than control, indicating newborn screening for PDE is feasible.
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Authors
Sunhee Jung, Nguyen-Thao B. Tran, Sidney M. Jr., Si Houn Hahn,