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Published in 2020 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(20)32548-1
Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the low-density lipoprotein (LDL) receptor or associated genes, resulting in elevated serum cholesterol levels and an increased risk of premature atherosclerotic cardiovascular…
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Keywords:
hypercholesterolemia;
screening familial;
familial hypercholesterolemia;
prognostic impact ... See more keywords
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Published in 2024 at "Current Opinion in Lipidology"
DOI: 10.1097/mol.0000000000000952
Abstract: Purpose of review Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any screening programme can cause harm as well as having potential benefits. Here…
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Keywords:
screening familial;
harm children;
harm;
universal screening ... See more keywords
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Published in 2022 at "International Journal of General Medicine"
DOI: 10.2147/ijgm.s359702
Abstract: Purpose The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs). Patients and Methods All family members were examined through detailed clinical evaluations, auxiliary examinations…
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Keywords:
screening familial;
family;
familial tuberous;
preliminary screening ... See more keywords
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Published in 2022 at "Arquivos brasileiros de cardiologia"
DOI: 10.36660/abc.20201371
Abstract: BACKGROUND Familial hypercholesterolemia (FH) is a genetic disease characterized by elevated serum levels of low-density lipoprotein cholesterol (LDL-C), and it is associated with the occurrence of early cardiovascular disease. In Brazil, HipercolBrasil, which is currently…
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Keywords:
hypercholesterolemia small;
hypercholesterolemia;
program;
small towns ... See more keywords