The abstract is read at the publisher; the summary is JClub's.
A new interactive web application enables in-depth exploration of metabolomics from plasma (474 individuals) and fibroblasts (67 subjects) spanning 65 monogenic inborn errors of metabolism.
- Why it matters: Inborn errors of metabolism affect both systemic and cellular metabolism, but researchers need an accessible way to examine patient- and diagnosis-level metabolic deviations across tissues.
- What they did: The team built a web interface to review, download, and analyze plasma and fibroblast metabolomics, including interactive tools for metabolic relationships and cross-matrix comparisons.
- The result: The resource supports research use for investigating metabolic pathway alterations and relationships within and across biological matrices in diagnosed and undiagnosed cases.
The findingWhy it mattersWhat they didThe result
AI summary of the abstract · may contain errors · not medical advice · read the paper.