Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measurement of lysosomal enzymatic activities in dried blood spots (DBS). Substrates used for these assays are discussed. While the positive predictive value (PPV) is the gold standard for evaluating medica...

Full description

Bibliographic Details
Main Author: Michael H. Gelb
Format: Article
Language:English
Published: MDPI AG 2018-07-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
lysosomal storage diseases
cutoff values
tandem mass spectrometry
diagnosis
prognosis
dried blood spots
enzymatic activity assays
Online Access:http://www.mdpi.com/2409-515X/4/3/23

Internet

http://www.mdpi.com/2409-515X/4/3/23

Similar Items