Journal article
Expanded Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Electrospray Ionization-Mass Spectrometry (CE-ESI-MS)
Abstract
Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry technology has emerged as one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases. However, confirmatory testing using methods with improved specificity is required in clinical laboratories to improve the positive predictive value for certain classes of IEMs …
Authors
Britz-McKibbin P
Journal
Methods in Molecular Biology, Vol. 919, , pp. 43–56
Publisher
Springer Nature
Publication Date
2013
DOI
10.1007/978-1-62703-029-8_5
ISSN
1064-3745