Source:http://linkedlifedata.com/resource/pubmed/id/11901023
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2002-3-19
|
| pubmed:abstractText |
A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0195-6108
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
23
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
480-3
|
| pubmed:dateRevised |
2008-2-14
|
| pubmed:meshHeading |
pubmed-meshheading:11901023-Acyltransferases,
pubmed-meshheading:11901023-Brain,
pubmed-meshheading:11901023-Chondrodysplasia Punctata, Rhizomelic,
pubmed-meshheading:11901023-Humans,
pubmed-meshheading:11901023-Infant, Newborn,
pubmed-meshheading:11901023-Magnetic Resonance Imaging,
pubmed-meshheading:11901023-Magnetic Resonance Spectroscopy,
pubmed-meshheading:11901023-Male,
pubmed-meshheading:11901023-Plasmalogens
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.
|
| pubmed:affiliation |
Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Marseille, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|