Metabolic Serendipities of Expanded Newborn Screening

Metabolic Serendipities of Expanded Newborn Screening

Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but...

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Bibliographic Details
Main Authors: Raquel Yahyaoui, Javier Blasco-Alonso, Montserrat Gonzalo-Marín, Carmen Benito, Juliana Serrano-Nieto, Inmaculada González-Gallego, Pedro Ruiz-Sala, Belén Pérez, Domingo González-Lamuño
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
newborn screening (NBS)
incidental finding
dried blood spot (DBS)
amino acids
acylcarnitines
next generation sequencing (NGS)
Online Access:https://www.mdpi.com/2073-4425/11/9/1018

Internet

https://www.mdpi.com/2073-4425/11/9/1018

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