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A CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE

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dc.contributor.authorCalik, M.
dc.contributor.authorTuncer, F. N.
dc.contributor.authorSarikaya, S.
dc.contributor.authorKarakas, O.
dc.contributor.authorCece, H.
dc.contributor.authorIscan, AKIN
dc.contributor.institutionauthorİŞCAN, AKIN
dc.date.accessioned2019-10-05T22:08:53Z
dc.date.available2019-10-05T22:08:53Z
dc.date.issued2014-01-01
dc.description.abstractA case of L-2 hydroxyglutaric aciduria presenting as febrile seizure: L-2 hydroxyglutaric aciduria (L2HGA) is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. A case is reported here of L2HGA presenting with macrocephaly and febrile seizure. Although there have been reports of epilepsy associated with L2HGA, to the best of our knowledge this is the second case in literature of febrile seizure in a patient with L2HGA. This report suggests that detailed neurological evaluation of macrocephalic children with febrile convulsion is important. Moreover, metabolic and genetic investigations may be necessary for these kinds of patients.
dc.identifier10.1021/ma100371y
dc.identifier.citationCalik M., Tuncer F. N. , Sarikaya S., Karakas O., Cece H., Iscan A., -A CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE-, GENETIC COUNSELING, cilt.25, ss.363-367, 2014
dc.identifier.urihttps://hdl.handle.net/20.500.12645/9023
dc.language.isoen
dc.titleA CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameMACROMOLECULES
local.avesis.ide07c9667-fbe0-4ebe-8593-a9298536bd0e
local.avesis.response8899
relation.isAuthorOfPublication12538a20-d5a6-4246-ab37-58afe7bbae72
relation.isAuthorOfPublication.latestForDiscovery12538a20-d5a6-4246-ab37-58afe7bbae72
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