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

• Автори: Dawn S. Peck (Автор), Jean M. Lacey (Автор), Amy L. White (Автор), Gisele Pino (Автор), April L. Studinski (Автор), Rachel Fisher (Автор), Ayesha Ahmad (Автор), Linda Spencer (Автор), Sarah Viall (Автор), Natalie Shallow (Автор), Amy Siemon (Автор), J. Austin Hamm (Автор), Brianna K. Murray (Автор), Kelly L. Jones (Автор), Dimitar Gavrilov (Автор), Devin Oglesbee (Автор), Kimiyo Raymond (Автор), Dietrich Matern (Автор), Piero Rinaldo (Автор), Silvia Tortorelli (Автор)
• Формат: Книга
• Опубліковано: MDPI AG, 2020-02-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...