Improving familial dyslipidaemia diagnosis

Graça, R.; Rossi, N.; Alves, A.C.; Medeiros, A.; Zimon, M.; Raush, T.; Benes, V.; Pepperkok, R.; Bourbon, M.

http://hdl.handle.net/10400.18/6352

Utilize este identificador para referenciar este registo.

Nome:	Descrição:	Tamanho:	Formato:
Improving familial dyslipidaemia diagnosis.pdf		51.89 KB	Adobe PDF	Ver/Abrir

Contacte-nos

Autores

Resumo(s)

Aim: Familial Hypercholesterolemia (FH) is characterized clinically by high LDL plasma concentrations from birth leading to premature atherosclerosis and CHD. Only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. The remaining individuals may have polygenic forms of dyslipidaemia or mutations in genes not yet associated with FH.

Palavras-chave

Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/6352

Citação

Atherosclerosis. 2018 Aug;275:e99. doi: 10.1016/j.atherosclerosis.2018.06.270

Editora

Elsevier/ European Atherosclerosis Society

DOI

10.1016/j.atherosclerosis.2018.06.270

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

Métricas Alternativas

Ver registo completo