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. 2021 Apr 21;8:114. doi: 10.1038/s41597-021-00894-y

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© Battelle Memorial Institute 2021 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Overview of the study design. Biofluid samples were collected from probands at the UDN clinical sites and then extracted for metabolomics (urine, plasma, CSF) and lipidomics (plasma and CSF) analyses using chromatography coupled to mass spectrometry (GC-MS for metabolomics and LC-MS/MS for lipidomics). Data were pre-processed, including data quality checks, normalized, and compared against data from the reference population of healthy individuals. Metabolomics and lipidomics results in the form of Z-score, log2 fold change and p-value per metabolite and lipid of the proband (and associated family members, if applicable) were reported back to the respective UDN Clinical Site for diagnostic assistance.