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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Detalles Bibliográficos
Autores principales: Robinson, Bruce H., Gelb, Michael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641561/
https://www.ncbi.nlm.nih.gov/pubmed/31328175
http://dx.doi.org/10.3390/ijns5020017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641561/
https://www.ncbi.nlm.nih.gov/pubmed/31328175
http://dx.doi.org/10.3390/ijns5020017

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