Genetics of the monogenic forms of dyslipidaemia

Bourbon, Mafalda2019-07-102019-07-102019-01http://hdl.handle.net/10400.18/6432Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.engFamilial HypercholesterolemiaSitosterolaemiaPortuguese FH studyPersonalized MedicineDyslipidaemiaDoenças Cardio e Cérebro-vascularesGenetics of the monogenic forms of dyslipidaemiaGenética das formas familiares de dislipedemiaconference object