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Joanna Waś

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Open access Oct 2026

Plasma Lipidomic Phenotype Associated with Pathogenic LDLR Variants in Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is caused by an impaired ability to clear circulating low-density lipoprotein (LDL-C) particles due to a defective low-density lipoprotein receptor (LDLR). FH significantly increases cardiovascular risk (CVR). Although conventional lipid parameters are essential for diagnosing FH, the...

Joanna Waś, Aleksander Prejbisz, M. Niedolistek et al. · 0 citations

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