Summary of Study ST001118

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR000749. The data can be accessed directly via it's Project DOI: 10.21228/M8VQ31 This work is supported by NIH grant, U2C- DK119886.

See: https://www.metabolomicsworkbench.org/about/howtocite.php

This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.

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Study IDST001118
Study TitleMetabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature
Study SummaryThis study is comparing the plasma metabolomics profile of patients with the genetic disorder, Wilson disease, compared to healthy subjects matched by age, sex, and BMI. Wilson disease is caused by a defect in a copper transporter leading to copper accumulation in the liver and brain leading to liver and/or neuropsychiatric symptoms. Mitochondrial defects are well-documented in Wilson disease. We hypothesize the acylcarnitine and primary metabolite profile will differ between patients with Wilson disease and healthy subjects and that these differences may indicate specific metabolic abnormalities.
Institute
University of California, Davis
Last NameMedici
First NameValentina
Address4150 V St, Sacramento CA 95817
Emailvmedici@ucdavis.edu
PhoneN/A
Submit Date2018-12-21
Num Groups2
Total Subjects110
Raw Data AvailableYes
Raw Data File Type(s)cdf
Analysis Type DetailGC-MS
Release Date2019-09-23
Release Version1
Valentina Medici Valentina Medici
https://dx.doi.org/10.21228/M8VQ31
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Combined analysis:

Analysis ID AN001817
Analysis type MS
Chromatography type GC
Chromatography system Agilent 6890N
Column Restek Rtx-5Sil MS (30 x 0.25mm, 0.25um)
MS Type EI
MS instrument type GC-TOF
MS instrument name Leco Pegasus III GC TOF
Ion Mode POSITIVE
Units Peak Height

Chromatography:

Chromatography ID:CH001283
Instrument Name:Agilent 6890N
Column Name:Restek Rtx-5Sil MS (30 x 0.25mm, 0.25um)
Chromatography Type:GC
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