Journal article
New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS)
Abstract
Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry (MS/MS) technology is one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases in the population. However, confirmatory testing of presumptive screen-positive cases is required using high efficiency separations for improved specificity in order to improve the …
Authors
Shanmuganathan M; Britz-McKibbin P
Journal
Methods in Molecular Biology, Vol. 1972, , pp. 139–163
Publisher
Springer Nature
Publication Date
2019
DOI
10.1007/978-1-4939-9213-3_10
ISSN
1064-3745