Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substr...

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Bibliographic Details
Main Authors: Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
mps i
second-tier testing
gags
biomarkers
postanalytical interpretation
Online Access:https://www.mdpi.com/2409-515X/6/1/10

Internet

https://www.mdpi.com/2409-515X/6/1/10

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