rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
11
|
pubmed:dateCreated |
2010-9-20
|
pubmed:abstractText |
In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern.
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
0006-3002
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pubmed:author |
|
pubmed:copyrightInfo |
Copyright © 2010 Elsevier B.V. All rights reserved.
|
pubmed:issnType |
Print
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pubmed:volume |
1802
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1112-7
|
pubmed:dateRevised |
2011-11-1
|
pubmed:meshHeading |
pubmed-meshheading:20637281-Adolescent,
pubmed-meshheading:20637281-Adult,
pubmed-meshheading:20637281-Biological Markers,
pubmed-meshheading:20637281-Canavan Disease,
pubmed-meshheading:20637281-Child,
pubmed-meshheading:20637281-Child, Preschool,
pubmed-meshheading:20637281-Dipeptides,
pubmed-meshheading:20637281-Female,
pubmed-meshheading:20637281-Gene Duplication,
pubmed-meshheading:20637281-Humans,
pubmed-meshheading:20637281-Magnetic Resonance Spectroscopy,
pubmed-meshheading:20637281-Male,
pubmed-meshheading:20637281-Molecular Structure,
pubmed-meshheading:20637281-Myelin Proteolipid Protein,
pubmed-meshheading:20637281-Organic Anion Transporters,
pubmed-meshheading:20637281-Pelizaeus-Merzbacher Disease,
pubmed-meshheading:20637281-Point Mutation,
pubmed-meshheading:20637281-Sensitivity and Specificity,
pubmed-meshheading:20637281-Symporters
|
pubmed:year |
2010
|
pubmed:articleTitle |
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.
|
pubmed:affiliation |
APHP, Department of Genetics, Hôpital de La Salpêtrière, Paris, France. fanny.mochel@upmc.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|