{Reference Type}: Journal Article
{Title}: Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
{Author}: Jung S;Tran NT;Gospe SM;Hahn SH;
{Journal}: Mol Genet Metab
{Volume}: 110
{Issue}: 3
{Year}: Nov 2013
{Factor}: 4.204
{DOI}: 10.1016/j.ymgme.2013.07.017
{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 -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.