Article
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism
2023-12-12
Abstract excerpt
Metabolomic profiling is instrumental in understanding the systemic and cellular impact of inborn errors of metabolism (IEMs), monogenic disorders caused by pathogenic genomic variants in genes involved in metabolism. This study encompasses untargeted metabolomics analysis of plasma from 474 individuals and fibroblasts from 67 subjects, incorporating healthy controls, patients with 65 different monogenic diseases,...
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Identifiers and source
- Literature Corpus work
- d3d5ea40-0644-5f37-8fe7-1b579494df14
- DOI
- 10.1101/2023.12.11.571124