Metabolomics research has recently gained popularity because it enables the study of
biological traits at the biochemical level and, as a result, can directly reveal what occurs in a …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

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 …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Background At least 50% of patients with suspected Mendelian disorders remain
undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding …

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 …

Given the rapidly decreasing cost and increasing speed and accessibility of massively
parallel technologies, the integration of comprehensive genomic, transcriptomic, and …

Rare genetic disorders, while individually rare, are collectively common. They represent
some of the most severe disorders affecting patients worldwide with significant morbidity and …

Timely newborn screening and genetic profiling are crucial in early recognition and
treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted …