Summary of project PR000183
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
| 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 |
Summary of all studies in project PR000183
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST000223 | Metabolic Aberrations in Barth Syndrome | Homo sapiens | University of North Carolina | NMR | 2016-07-08 | 1 | 40 | Uploaded data (13.6M)* |
