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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Pubblicato in:Int J Neonatal Screen
Autori principali: Peck, Dawn S., Lacey, Jean M., White, Amy L., Pino, Gisele, Studinski, April L., Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J. Austin, Murray, Brianna K., Jones, Kelly L., Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422968/
https://ncbi.nlm.nih.gov/pubmed/33073008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6010010
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