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

• প্রধান লেখক: Bruce H. Robinson (লেখক), Michael H. Gelb (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2019-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...