Linked Life Data

15726477

Source:http://linkedlifedata.com/resource/pubmed/id/15726477

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-2-23
pubmed:abstractText
We present a of 22 years old patient who has a severe cerebellar disease that started during the first years of life, borderline mental level, epilepsy and Klinefelter syndrome. Brain magnetic resonance (MR) imaging revealed swollen white matter with a loss of signal on T1-weighted slices and an increase in signal intensity on T2-weighted images in both cerebral hemispheres and in both cerebellar dentate nuclei. MRI alterations did not change during the studies performed from 4 to 21 years. Blood and urine were analyzed and showed great elevation of L-2-hydroxyglutaric acid (L-2-HGA) and more discrete elevation of its metabolites and lysine. The parents of the patient are first cousins.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0213-4853
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
90-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
[L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome].
pubmed:affiliation
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid. pascas@inves.es
pubmed:publicationType
Journal Article, English Abstract, Case Reports