Universal screening for inherited metabolic diseases in the neonate (and the fetus)

Abstract excerpt

The traditional focus of newborn screening for inherited metabolic diseases is to test infants for medical conditions that may cause significant morbidity and mortality unless treatment is initiated early. A major change began with the application of tandem mass spectrometry to the quantitative analysis of amino acids and acylcarnitines in dried blood spots. Beyond the lack of a consensus on disease selection,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomic variations and chromosomal abnormalities
• Share to Metabolism and Genetic Disorders
• Share to Prenatal Screening and Diagnostics