A metabolomic map of Zellweger spectrum disorders reveals
novel disease biomarkers. Global metabolic profiling obtained by
untargetedmass spectrometry-based metabolomic platform for the
detectionof novel and known inborn errors of metabolism. This
untargeted approach collected z-score values for >650 unique compounds
fromhuman plasma. Data set contains 19 individual plasma samples with
confirmed biallelic pathogenic variants in the PEX1 gene. These
samples revealed elevations in pipecolic acid and long-chain
lysophosphatidylcholines, as well as an unanticipated reduction
in multiple sphingomyelin species.
Usage
data(Wangler2017)
Arguments
Format
Wangler2017 - The data matrix (metabolite features are
rows, patient observations are columns) for 19 untargeted metabolomics
patient samples, alongside metabolite annotations.
References
M.F. Wangler, et al. (2018). A metabolomic map of Zellweger
spectrum disorders reveals novel disease biomarkers. Genetics in
Medicine, 20: 1274-1283.
(Article)