Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Journal Article (Journal Article)
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 -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.
Full Text
Duke Authors
Cited Authors
- Jung, S; Tran, N-TB; Gospe, SM; Hahn, SH
Published Date
- November 2013
Published In
Volume / Issue
- 110 / 3
Start / End Page
- 237 - 240
PubMed ID
- 23953072
Electronic International Standard Serial Number (EISSN)
- 1096-7206
Digital Object Identifier (DOI)
- 10.1016/j.ymgme.2013.07.017
Language
- eng
Conference Location
- United States