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

Publication ,  Journal Article
Jung, S; Tran, N-TB; Gospe, SM; Hahn, SH
Published in: Mol Genet Metab
November 2013

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.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2013

Volume

110

Issue

3

Start / End Page

237 / 240

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Retrospective Studies
  • Neonatal Screening
  • Male
  • Infant, Newborn
  • Humans
  • Genetics & Heredity
  • Female
  • Epilepsy
  • Chromatography, Liquid
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Jung, S., Tran, N.-T., Gospe, S. M., & Hahn, S. H. (2013). Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab, 110(3), 237–240. https://doi.org/10.1016/j.ymgme.2013.07.017
Jung, Sunhee, Nguyen-Thao B. Tran, Sidney M. Gospe, and Si Houn Hahn. “Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.Mol Genet Metab 110, no. 3 (November 2013): 237–40. https://doi.org/10.1016/j.ymgme.2013.07.017.
Jung, Sunhee, et al. “Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.Mol Genet Metab, vol. 110, no. 3, Nov. 2013, pp. 237–40. Pubmed, doi:10.1016/j.ymgme.2013.07.017.
Jung S, Tran N-TB, Gospe SM, Hahn SH. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab. 2013 Nov;110(3):237–240.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

November 2013

Volume

110

Issue

3

Start / End Page

237 / 240

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Retrospective Studies
  • Neonatal Screening
  • Male
  • Infant, Newborn
  • Humans
  • Genetics & Heredity
  • Female
  • Epilepsy
  • Chromatography, Liquid