Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.

Published

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

Gospe Jr., Sidney M.

Cited Authors

Jung, S; Tran, N-TB; Gospe, SM; Hahn, SH

Published Date

November 2013

Published In

Molecular Genetics and Metabolism

Volume / Issue

110 / 3

Start / End Page

237 - 240

PubMed ID

23953072

Pubmed Central ID

23953072

Electronic International Standard Serial Number (EISSN)

1096-7206

International Standard Serial Number (ISSN)

1096-7192

Digital Object Identifier (DOI)

10.1016/j.ymgme.2013.07.017

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