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 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):237–40.
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.
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