Source:http://linkedlifedata.com/resource/pubmed/id/21557147
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2011-5-10
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pubmed:abstractText |
Zellweger spectrum disorder, resulting from mutations in the peroxisome assembly mechanism, is genetically heterogeneous and phenotypically varied in disease characteristics and severity. In addition to manifesting gyration anomalies, affected individuals typically have white matter abnormalities ranging from hypomyelination in infancy to a more diffuse demyelinating leukoencephalopathy pattern in those surviving into childhood. Here we report a unique presentation in a 2/-year-boy with acute neurological deterioration and MRI demonstrating avid contrast enhancement suggesting inflammatory demyelination in the brainstem.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1439-1899
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pubmed:author | |
pubmed:copyrightInfo |
© Georg Thieme Verlag KG Stuttgart · New York.
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pubmed:issnType |
Electronic
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
32-4
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pubmed:meshHeading |
pubmed-meshheading:21557147-Brain Stem,
pubmed-meshheading:21557147-Contrast Media,
pubmed-meshheading:21557147-Gadolinium,
pubmed-meshheading:21557147-Humans,
pubmed-meshheading:21557147-Infant,
pubmed-meshheading:21557147-Magnetic Resonance Imaging,
pubmed-meshheading:21557147-Male,
pubmed-meshheading:21557147-Neural Pathways,
pubmed-meshheading:21557147-Zellweger Syndrome
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pubmed:year |
2011
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pubmed:articleTitle |
Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?
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pubmed:affiliation |
School of Medicine, Johns Hopkins University Baltimore, Maryland 21287, USA. kopal@jhmi.edu
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pubmed:publicationType |
Journal Article,
Case Reports
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