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Title: Portuguese experience on cascade screening of index patients with FH
Author: 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.
Appears in Collections:DPSPDNT - Posters/abstracts em congressos internacionais

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