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.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
Study ID | ST000223 |
Study Title | Metabolic Aberrations in Barth Syndrome |
Study Type | Metabolomic analysis of plasma samples |
Study Summary | 1) 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 |
Department | Discovery Science Technology |
Laboratory | Sumner Lab |
Last Name | Sumner |
First Name | Susan |
Address | Eastern Regional Comprehensive Metabolomics Resource Core, UNC Nutrition Research Institute, 500 Laureate Way, Kannapolis, NC, 28081 |
susan_sumner @unc.edu | |
Phone | 704-250-5066 |
Submit Date | 2015-06-29 |
Num Groups | 2 |
Total Subjects | 37 |
Raw Data Available | Yes |
Raw Data File Type(s) | fid |
Uploaded File Size | 16 M |
Analysis Type Detail | NMR |
Release Date | 2016-07-08 |
Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Project:
Project ID: | PR000183 |
Project DOI: | doi: 10.21228/M8GK50 |
Project Title: | Metabolic Aberrations in Barth Syndrome |
Project Type: | Metabolomics |
Project Summary: | The overall objective of thispilot research project is to investigate metabolic mechanisms involved in disturbed intermediary metabolism in Barth Syndrome. Barth Syndrome (BTHS) is x-linked disorder characterized mainly by dilated cardiomyopathy, skeletal muscle weakness and neutropenia. BTHS is caused by defects in Tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin, a critical phospholipid of the mitochondrial inner membrane. While a few comprehensive clinical studies of BTHS have been published detailing its cardiac and hematologic features, descriptions of its biochemical characteristics are limited. |
Institute: | Johns Hopkins University |
Department: | Department of Pediatrics |
Last Name: | Vernon |
First Name: | Hilary |
Address: | 733 N. Broadway St., Baltimore, MD 21205 |
Email: | hvernon1@jhmi.edu |
Phone: | (443) 923-2783 |