rdf:type |
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lifeskim:mentions |
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pubmed:issue |
21
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pubmed:dateCreated |
2010-11-24
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pubmed:abstractText |
Late infantile metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder that causes severe demyelination of the nervous system. The neuronal metabolite N-acetylaspartate (NAA) serves as a source of acetyl groups for myelin lipid synthesis in oligodendrocytes and is known as a marker for neuronal and axonal loss. NAA and other metabolite levels measured by proton magnetic resonance spectroscopy (MRS) correlate with performance of the brain in normal children. There is a need for sensitive measures of disease progression in patients with MLD to enable development of future treatments.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
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pubmed:month |
Nov
|
pubmed:issn |
1526-632X
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pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:day |
23
|
pubmed:volume |
75
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1896-903
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pubmed:meshHeading |
pubmed-meshheading:21098404-Aspartic Acid,
pubmed-meshheading:21098404-Biological Markers,
pubmed-meshheading:21098404-Brain,
pubmed-meshheading:21098404-Child, Preschool,
pubmed-meshheading:21098404-Choline,
pubmed-meshheading:21098404-Cognition,
pubmed-meshheading:21098404-Creatine,
pubmed-meshheading:21098404-Disease Progression,
pubmed-meshheading:21098404-Female,
pubmed-meshheading:21098404-Humans,
pubmed-meshheading:21098404-Leukodystrophy, Metachromatic,
pubmed-meshheading:21098404-Magnetic Resonance Spectroscopy,
pubmed-meshheading:21098404-Male,
pubmed-meshheading:21098404-Movement,
pubmed-meshheading:21098404-Sensitivity and Specificity
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pubmed:year |
2010
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pubmed:articleTitle |
Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy.
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pubmed:affiliation |
Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. cid@dadlnet.dk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Clinical Trial, Phase I
|