The epidemiology of hypernatraemia in hospitalised children in Lothian: a 10-year study showing differences between dehydration, osmoregulatory dysfunction and salt poisoning
Abstract:Journal WatchPlasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia R Huijgen, SW Fouchier, M Denoun, et al. J Lipid Res 2012;53:979-83 Mutations in the genes coding for the LDL-receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) are now known to cause familial hypercholesterolaemia (FH). However, molecularly diagnosed FH patients do not always exhibit a hypercholesterolaemic phenotype. The reasons are largely unknown.The authors po… Show more
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