Linked Life Data

16838891

Source:http://linkedlifedata.com/resource/pubmed/id/16838891

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-7-14
pubmed:abstractText
Costeff syndrome or 3-methylglutaconic aciduria type 3, was described by a group of Israeli doctors in 1989. Since then more than 40 patients were described. Most of the patients are of Iraqi-Jewish origin. The clinical abnormalities are bilateral optic atrophy, extrapyramidal signs, spasticity ataxia, dysarthria and mild cognitive deficit. Recently, the gene responsible for this disorder, OPA3 gene was identified. This gene was also discovered by an Israeli doctor. This is a case history of a patient with Costeff syndrome presenting the characteristics of this syndrome and the gene that causes this disease.
pubmed:language
heb
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0017-7768
pubmed:author
pubmed:issnType
Print
pubmed:volume
145
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
402-3, 472
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].
pubmed:affiliation
Department of Medicine E, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University.
pubmed:publicationType
Journal Article, English Abstract, Case Reports