Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

doi:10.1016/j.atherosclerosis.2006.11.015

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Article

Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.

Atherosclerosis - 1 Jan 2008

Campagna Filomena, Martino Francesco, Bifolco Maura, Montali Anna, Martino Eliana, Morrone Francesco, Antonini Roberto, Cantafora Alfredo, Verna Roberto, Arca Marcello

Abstract excerpt

The diagnosis of familial hypercholesterolemia (FH) in unselected children is difficult due to the frequent overlap of cholesterol values in affected and non-affected and the paucity of physical signs. Nevertheless, detection and treatment of FH in childhood has been advocated to prevent atherosclerosis in these patients. Here, we report the results of a screening program in a cohort of 157 unrelated,...

Topics

Adolescent
Biomarkers
Child
Child, Preschool
Cholesterol, LDL
Cohort Studies
Female
Genetic Testing
Humans
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Italy

Male

Mass Screening

Polymorphism, Single Nucleotide

Receptors, LDL

Reference Values

Source

Open in PubMed

Identifiers

PMID: 17196209
DOI: 10.1016/j.atherosclerosis.2006.11.015

Genes

LDLR
CAD

Variants

Provenance

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