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The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases

For newborn screening (NBS) of lysosomal storage diseases, programs measure enzymatic activities in dried blood spots (DBS) and, in most cases, act on samples where the measurement is below a specific cutoff value. The rate of false positives and negatives in any NBS program is of critical importanc...

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Principais autores: Bruce H. Robinson, Michael H. Gelb
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2019-03-01
coleção:International Journal of Neonatal Screening
Assuntos:
newborn screening
cutoff values
assay imprecision
false positives
false negatives
screening assays
Acesso em linha:https://www.mdpi.com/2409-515X/5/2/17
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