Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …

Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially
during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

Importance Newborn screening via biochemical tests is in use worldwide. The availability of
genetic sequencing has allowed rapid screening for a substantial number of monogenic …

Purpose We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher,
Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage …

The rapid development of genomic sequencing technologies has decreased the cost of
genetic analysis to the extent that it seems plausible that genomescale sequencing could …

In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to
measure phenylalanine in dried blood spots, provided the means for whole-population …

Purpose The implementation of newborn screening for lysosomal disorders has uncovered
overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up …

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally
not detected early in life on a clinical basis, and if sensitive and specific biochemical markers …