Linked Life Data

17213773

Source:http://linkedlifedata.com/resource/pubmed/id/17213773

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12 Pt 1
pubmed:dateCreated
2007-1-10
pubmed:abstractText
Cerebrotendinous xanthomatosis is a rare lipid storage disorder due tocaused by an autosomal recessive inherited defect of the hepatic mitochondrial sterol 27 hydroxylase. It's characterized by accumulation of cholestanol and cholesterol in many tissues, in particular tendons and brain, with tendon xanthomas, juvenile cataracts, and neurological abnormalities. MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei. Early and long- term treatment may improve neurologic function. The authors present a case of cerebrotendinous xanthomatosis and describe ultrasound, computed tomography, and magnetic resonance findings.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0221-0363
pubmed:author
pubmed:issnType
Print
pubmed:volume
87
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1883-6
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
[Imaging of cerebrotendinous xanthomatosis].
pubmed:affiliation
Service de Neuroradiologie, Institut National de Neurologie, Tunis, Tunisie. sonia.nagi@rns.tn
pubmed:publicationType
Journal Article, English Abstract, Case Reports