%0 Journal Article
%T Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
%A Jung S
%A Tran NT
%A Gospe SM
%A Hahn SH
%J Mol Genet Metab
%V 110
%N 3
%D Nov 2013
%M 23953072
%F 4.204
%R 10.1016/j.ymgme.2013.07.017
%X 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.