Article
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Atherosclerosis - 1 Feb 2021
Futema Marta, Ramaswami Uma, Tichy Lukas, Bogsrud Martin P, Holven Kirsten B, Roeters van Lennep Jeanine, Wiegman Albert, Descamps Olivier S, De Leener Anne, Fastre Elodie, Vrablik Michal, Freiberger Tomas, Esterbauer Harald, Dieplinger Hans, Greber-Platzer Susanne, Medeiros Ana M, Bourbon Mafalda, Mollaki Vasiliki, Drogari Euridiki, Humphries Steve E
Abstract excerpt
BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is commonly caused by mutations in the LDLR, APOB or PCSK9 genes, with untreated mean low density lipoprotein-cholesterol (LDL-C) concentrations being elevated in APOB mutation carriers, even higher in LDLR mutation and highest in those with a PCSK9 mutation. Here we examine this in children with FH from Norway, UK, The Netherlands, Belgium, Czech Republic,...
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