Background Most infants with congenital Toxoplasma gondii infection have no symptoms at
birth, but many will have retinal disease or neurologic abnormalities later in life. Early …

Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn
screening programs to screen dried blood spots for >20 markers of disease in a single assay. …

ContextTandem mass spectrometry now allows newborn screening for more than 20 biochemical
genetic disorders. Questions about the effectiveness and risks of expanded newborn …

Objectives. Newborn screening for cystic fibrosis (CF) provides a model to investigate the
implications of applying multiple-mutation DNA testing in screening for any disorder in a …

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel
approach made possible by the collaboration of 154 laboratories in 49 countries. Methods…

BACKGROUND Real-time quantitative PCR (qPCR) targeting a specific marker of functional
T cells, the T-cell–receptor excision circle (TREC), detects the absence of functional T cells …

Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under
consideration for population‐based newborn screening (NBS) by many NBS programs, and …

… Yang BS l , Inderneel Sahai MD a e , Roger B. Eaton PhD a e , Alfred DeMaria MD o ,
Luigi D. Notarangelo MD p , Sung-Yun Pai MD c q r ∗∗ … Anne Marie Comeau PhD a e ∗∗ …

4. Thompson JG, Wilkey JF, Baptiste JC, Navas JS, Pai SY, Pass KA, et al. Development of
a high throughput multiplexed TREC qPCR assay with internal controls for detection of …

OBJECTIVE. Our goal was to describe the clinical spectrum of medium-chain acyl-CoA
dehydrogenase deficiency detected by routine newborn screening and assess factors associated …