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

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

International Journal of Neonatal Screening（2020）

引用 32|浏览33
关键词
newborn screening,MPS I,second-tier testing,GAGs,biomarkers,postanalytical interpretation
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