Open Access
Methods in Molecular Biology, pages 139-163
New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS)
Publication type: Book Chapter
Publication date: 2019-03-07
Journal:
Methods in Molecular Biology
Quartile SCImago
Q3
Quartile WOS
—
Impact factor: —
ISSN: 10643745, 19406029
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 positive predictive value (PPV) for certain classes of IEMs. Here, we describe recent advances using capillary electrophoresis-mass spectrometry (CE-MS) for reliable second-tier screening or confirmatory testing based on targeted analysis of amino acids, acylcarnitines, nucleosides, and other classes of polar metabolites associated with IEMs. Additionally, nontargeted metabolite profiling enables the identification of unknown biomarkers of clinical significance for other genetic diseases that are currently screened by bioassays and/or mutation panels, such as cystic fibrosis (CF). Noteworthy, CE-MS allows for resolution of isobaric/isomeric interferences without complicated sample handling that is ideal when analyzing volume-restricted biospecimens from neonates/infants, including dried blood spots and sweat specimens. New developments to improve concentration sensitivity, as well as enhance sample throughput and quality control for unambiguous confirmatory testing of IEMs will also be discussed when using multiplexed separations based on multisegment injection-CE-MS.
Top-30
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Citations by publishers
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1 publication, 14.29%
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Autonomous Non-profit Organization Editorial Board of the journal Uspekhi Khimii
1 publication, 14.29%
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- We do not take into account publications without a DOI.
- Statistics recalculated only for publications connected to researchers, organizations and labs registered on the platform.
- Statistics recalculated weekly.
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Shanmuganathan M., Britz-McKibbin P. New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS) // Methods in Molecular Biology. 2019. pp. 139-163.
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Shanmuganathan M., Britz-McKibbin P. New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS) // Methods in Molecular Biology. 2019. pp. 139-163.
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TY - GENERIC
DO - 10.1007/978-1-4939-9213-3_10
UR - https://doi.org/10.1007/978-1-4939-9213-3_10
TI - New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS)
T2 - Methods in Molecular Biology
AU - Shanmuganathan, Meera
AU - Britz-McKibbin, Philip
PY - 2019
DA - 2019/03/07 00:00:00
PB - Springer Nature
SP - 139-163
SN - 1064-3745
SN - 1940-6029
ER -
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@incollection{2019_Shanmuganathan,
author = {Meera Shanmuganathan and Philip Britz-McKibbin},
title = {New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS)},
publisher = {Springer Nature},
year = {2019},
pages = {139--163},
month = {mar}
}