Article
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Journal of clinical lipidology - 1 Jan 2000
Di Costanzo Alessia, Di Leo Enza, Noto Davide, Cefalù Angelo Baldassare, Minicocci Ilenia, Polito Luca, D'Erasmo Laura, Cantisani Vito, Spina Rossella, Tarugi Patrizia, Averna Maurizio, Arca Marcello
Abstract excerpt
BACKGROUND: The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. OBJECTIVE: A direct comparison of lipid phenotypes of these 2 conditions has never been carried out. In addition, although an...
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