Metabolomics, which is the metabolites profiling in biological matrices, is a key tool for
biomarker discovery and personalized medicine and has great potential to elucidate the …

Widespread application of omic technologies is evolving our understanding of population
health and holds promise in providing precise guidance for selection of therapeutic …

Background The application of whole-exome sequencing for the diagnosis of genetic
disease has paved the way for systems-based approaches in the clinical laboratory. Here …

Importance Recent advances in newborn screening (NBS) have improved the diagnosis of
inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not …

Metabolomics is the untargeted measurement of the metabolome, which is composed of the
complement of small molecules detected in a biological sample. As such, metabolomic …

Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …

Untargeted metabolomics is a global molecular profiling technology that can be used to
screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based …

Autism spectrum disorders (ASDs) are a group of neurodevelopment disorders
characterized by childhood onset deficits in social communication and interaction. Although …

In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a
complete view of metabolite status. Here, we describe a non-quantitative direct-infusion high …

Background Metabolomics is the study of small molecules to simultaneously identify multiple
low molecular weight molecules in a system. Broadly speaking, metabolomics can be …