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

• मुख्य लेखकों: Dawn S. Peck (लेखक), Jean M. Lacey (लेखक), Amy L. White (लेखक), Gisele Pino (लेखक), April L. Studinski (लेखक), Rachel Fisher (लेखक), Ayesha Ahmad (लेखक), Linda Spencer (लेखक), Sarah Viall (लेखक), Natalie Shallow (लेखक), Amy Siemon (लेखक), J. Austin Hamm (लेखक), Brianna K. Murray (लेखक), Kelly L. Jones (लेखक), Dimitar Gavrilov (लेखक), Devin Oglesbee (लेखक), Kimiyo Raymond (लेखक), Dietrich Matern (लेखक), Piero Rinaldo (लेखक), Silvia Tortorelli (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2020-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...