Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology.

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ID: 81494
2020
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Abstract
Certain rare inborn errors of metabolism clinically present with intractable seizures that readily respond to vitamin therapy. If identified early, brain damage due to seizures can be prevented. A LC-MS method was developed and validated for the simultaneous quantification of the biomarkers in selected vitamin responsive pediatric seizures from dried blood spots. Application of the validated method to a seizure cohort of 46 patients indicated strong agreement of the method for clinical validity. Reference intervals for these biomarkers in dried blood spots were also determined for the population, after screening 956 neonates. The developed method was seen to be sensitive, linear, accurate and precise for testing vitamin responsive pediatric seizures.
Reference Key
mathew2020biomarkerbioanalysis Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Mathew, Elizabeth Mary;Moorkoth, Sudheer;Lewis, Leslie;Rao, Pragna;
Journal bioanalysis
Year 2020
DOI
10.4155/bio-2019-0121
URL
Keywords
lc–ms dried blood spot intractable seizures reference ranges vitamin responsive seizures

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