dc.contributor.author |
Varga Viktória Evelin |
|
dc.contributor.author |
Katkó Mónika |
|
dc.contributor.author |
Harangi János |
|
dc.contributor.author |
Balogh István |
|
dc.contributor.author |
Kapás István |
|
dc.contributor.author |
Madar László |
|
dc.contributor.author |
Seres Ildikó |
|
dc.contributor.author |
Molnár Mária Judit |
|
dc.contributor.author |
Paragh György |
|
dc.contributor.author |
Kovács G. Gábor |
|
dc.contributor.author |
Harangi Mariann |
|
dc.date.accessioned |
2014-12-08T12:55:46Z |
|
dc.date.available |
2014-12-08T12:55:46Z |
|
dc.date.issued |
2014 |
|
dc.identifier.citation |
pagination=811-816;journalVolume=155;journalIssueNumber=21;journalTitle=ORVOSI HETILAP; |
hu |
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/489 |
|
dc.identifier.uri |
doi:10.1556/OH.2014.29887 |
|
dc.description.abstract |
Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved in bile acid synthesis. The diagnosis is often missed and delayed because of the variable clinical presentation of the disease. Blood testing for cerebrotendinous xanthomatosis is routinely performed using gas chromatography-mass spectrometry measurement of elevated cholestanol level, and the diagnosis is confirmed by molecular genetic analysis. Early recognition and initiation of chenodeoxycholic acid therapy with hydoxymethylglutarylCoenzyme-A reductase inhibitors is critical to prevent irreversible neurological damage and permanent disability. The authors summarize the current knowledge about the pathomechanism, laboratory diagnosis and therapeutic options of cerebrotendinous xanthomatosis. Orv. Hetil., 2014, 155(21), 811-816. |
hu |
dc.relation.ispartof |
urn:issn:0030-6002 |
|
dc.title |
Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája |
hu |
dc.type |
Journal Article |
hu |
dc.date.updated |
2014-11-10T20:20:01Z |
|
dc.language.rfc3066 |
hu |
hu |
dc.identifier.mtmt |
2595867 |
|
dc.identifier.pubmed |
24836315 |
|
dc.contributor.department |
SE/ÁOK/I/Genomikai Medicina és Ritka Betegségek Intézete |
|
dc.contributor.institution |
Semmelweis Egyetem |
|