| Wangler2017 {CTD} | R Documentation |
Wangler et al. (2017)
Description
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)
Format
Wangler2017 - The data matrix (metabolite features are rows, patient observations are columns) for 19 untargeted metabolomics patient samples, alongside metabolite annotations.
Source
Electronic supplementary material, Supplementary Tables (Dataset)
References
M.F. Wangler, et al. (2018). A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genetics in Medicine, 20: 1274-1283. <doi:10.1038/gim.2017.262>
Examples
data(Wangler2017)