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.
| Study ID | ST001118 |
| Study Title | Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature |
| Study Summary | This 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 Name | Medici |
| First Name | Valentina |
| Address | 4150 V St, Sacramento CA 95817 |
| vmedici@ucdavis.edu | |
| Phone | N/A |
| Submit Date | 2018-12-21 |
| Num Groups | 2 |
| Total Subjects | 110 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | cdf |
| Analysis Type Detail | GC-MS |
| Release Date | 2019-09-23 |
| Release Version | 1 |
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Subject:
| Subject ID: | SU001164 |
| Subject Type: | Human |
| Subject Species: | Homo sapiens |
| Taxonomy ID: | 9606 |
| Species Group: | Mammals |
