Linked Life Data

1494725

Source:http://linkedlifedata.com/resource/pubmed/id/1494725

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8-9
pubmed:dateCreated
1993-3-10
pubmed:abstractText
A 40-year-old woman presented with bilateral juvenile cataract, tendinous xanthomas, intellectual deterioration, spastic tetraparesis, proprioceptive deficit and parkinsonian syndrome. A younger sister's clinical picture differed by the absence of xanthomas and the presence of a cerebellar syndrome. The diagnosis of cerebrotendinous xanthomatosis was confirmed by a high concentration of plasma cholestanol and by urinary chromatography. Magnetic resonance imaging displayed some abnormalities in the hemispheric and cerebellar white matter. Under chenodesoxycholic therapy the biological abnormalities decreased while the clinical disturbances were unchanged.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0035-3787
pubmed:author
pubmed:issnType
Print
pubmed:volume
148
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
541-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
[Cerebrotendinous xanthomatosis. 2 cases with magnetic resonance imaging].
pubmed:affiliation
Service de Clinique Neurologique A, CHU Lille.
pubmed:publicationType
Journal Article, English Abstract, Review