Repository logo
 
Publication

The impact of cascade screening in familial hypercholesterolemia diagnosis

2012-06Conference object Open access
Simple item page
dc.contributor.authorGomes, A.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorLeitão, F.
dc.contributor.authorAlves, A.C.
dc.contributor.authorBourbon, M.
dc.date.accessioned2012-07-10T13:52:29Z
dc.date.available2012-07-10T13:52:29Z
dc.date.issued2012-06
dc.description.abstractFamilial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. It’s characterized by an increase of total and LDL cholesterol levels leading to premature cardiovascular disease. According to the frequency of the disease in most European countries (1:500 individuals) it is estimated that in Portugal exists about 20.000 cases of FH, but this disease is severe under-diagnosed in our country. Cascade screening (CS) is as method for identifying individuals at risk of a genetic condition by a process of family tracing through molecular studies, allowing the rapid identification of new FH cases within a family.por
dc.identifier.urihttp://hdl.handle.net/10400.18/906
dc.language.isoengpor
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpor
dc.subjectDoenças Cardio e Cérebro-vascularespor
dc.titleThe impact of cascade screening in familial hypercholesterolemia diagnosispor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceAthens, Greecepor
oaire.citation.title1st International Conference on Familial Hypercholesterolaemia in Children & Adolescents, 8-9 June 2012por
rcaap.rightsopenAccesspor
rcaap.typeconferenceObjectpor

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
The impact of cascade screening in familial hypercholesterolemia diagnosis.pdf
Size:
1.15 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DPSPDNT - Posters/abstracts em congressos internacionais