Summary of Study ST001518

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 PR001023. The data can be accessed directly via it's Project DOI: 10.21228/M8G410 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 IDST001518
Study TitleMetabolome analysis in the diagnosis of childhood cerebellar ataxia
Study SummaryMetabolome studies to aid in the diagnosis and molecular elucidation of a child presenting chronic progressive cerebellar ataxia and an undiagnosed condition.
Institute
CEMBIO
Last NameSáiz
First NameJorge
Addresskm 0, Universidad CEU-San Pablo Urbanización Montepríncipe. M-501, 28925 Alcorcón
Emailjorge.saizgalindo@ceu.es
Phone913 72 47 11
Submit Date2020-10-20
Raw Data AvailableYes
Raw Data File Type(s)d
Analysis Type DetailGC-MS/LC-MS
Release Date2021-10-20
Release Version1
Jorge Sáiz Jorge Sáiz
https://dx.doi.org/10.21228/M8G410
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Treatment:

Treatment ID:TR001607
Treatment Summary:Metabolite extraction was performed in plasma and urine samples from the patient and a healthy control, matched for age, sex and weight, according to standard protocols with some modifications.
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