Summary of Study ST000223

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 PR000183. The data can be accessed directly via it's Project DOI: 10.21228/M8GK50 This work is supported by NIH grant, U2C- DK119886.

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Study IDST000223
Study TitleMetabolic Aberrations in Barth Syndrome
Study TypeMetabolomic analysis of plasma samples
Study Summary1) Characterize plasma metabolome in Barth Syndrome 2) To implement targeted, quantitative studies on prospective biomarkers and metabolites of interest derived from the non-targeted phase.
Institute
University of North Carolina
DepartmentDiscovery Science Technology
LaboratorySumner Lab
Last NameSumner
First NameSusan
AddressEastern Regional Comprehensive Metabolomics Resource Core, UNC Nutrition Research Institute, 500 Laureate Way, Kannapolis, NC, 28081
Emailsusan_sumner @unc.edu
Phone704-250-5066
Submit Date2015-06-29
Num Groups2
Total Subjects37
Raw Data AvailableYes
Raw Data File Type(s)fid
Uploaded File Size16 M
Analysis Type DetailNMR
Release Date2016-07-08
Release Version1
Susan Sumner Susan Sumner
https://dx.doi.org/10.21228/M8GK50
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Collection:

Collection ID:CO000230
Collection Summary:All participants have been carefully phenotyped and have a molecular confirmation of BTHS. In order to mitigate the potential effects of intercurrent illness in individual patients, plasma samples were collected under controlled conditions, while the patient is in a homeostatic state of wellness (outpatient setting). We controlled for nutritional effects by selecting samples hta thave amino acid profiles consistent with 4-6 hours of fasting. All samples were collected in an EDTA treated collection tube, plasma was separated via centrifugation and has been stored in a controlled setting at -80 degrees Celsius since collection.
Sample Type:Blood
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