dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in universal newborn screening (NBS). Tandem-mass-spectrometry-based screening of metabolic analytes in dried blood spot samples identifies most affected newborns, along with a numbe...

Full description

Bibliographic Details
Main Authors: Gang Peng, Yunxuan Zhang, Hongyu Zhao, Curt Scharfe
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
inborn metabolic disorders
tandem mass spectrometry
false positive screen
second-tier testing
Online Access:https://www.mdpi.com/2409-515X/8/3/48

Internet

https://www.mdpi.com/2409-515X/8/3/48

Similar Items