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Repositório Científico do Instituto Nacional de Saúde >
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/10400.18/902
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| Title: | Portuguese experience on cascade screening of index patients with FH |
| Authors: | Medeiros, A.M.
Alves, A.C.
Leitão, F.
Bourbon, M. |
| Keywords: | Doenças Cardio e Cérebro-vasculares |
| Issue Date: | May-2012 |
| Publisher: | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP |
| Abstract: | Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes.
FH has a estimated frequency of 1:500 in most European countries. Based on this frequency Portugal should have about 20000 cases of FH, however in our country this disorder is under-diagnosed. |
| URI: | http://hdl.handle.net/10400.18/902 |
| Appears in Collections: | DPSPDNT - Posters/abstracts em congressos internacionais
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