Genetics of the monogenic forms of dyslipidaemia

Familial 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.

Bibliographic Details
Main Author: Bourbon, Mafalda (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolemia
Sitosterolaemia
Portuguese FH study
Personalized Medicine
Dyslipidaemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/6432
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6432
Description
Summary:Familial 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.

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