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Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low‐density lipoprotein cholesterol (LDL‐C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH‐causing variant is only found in 40%‐50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients...
Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis.Coding, splice regions, and promoter region...
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