PURPOSE: Apolipoprotein E (ApoE) is a polymorphic protein that plays a central part in
plasma metabolism of lipids and in central nervous system lipid homeostasis. Our purpose …

Background Patients with lipoprotein lipase deficiency usually present with chylomicronemia
in childhood. The syndrome has been considered nonatherogenic primarily because of the …

Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited
disorder characterized by isolated elevation of LDL leading to premature cardiovascular …

Objective—Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the
regulation of cholesterol homeostasis, increasing the low-density lipoprotein (LDL) receptor …

Purpose.: We assessed the associations of serum, red blood cell membranes (RBCM) and
dietary long-chain n-3 polyunsaturated fatty acids (LC-PUFAs) with neovascular age-related …

Objective To evaluate the efficacy of docosahexaenoic acid (DHA)–enriched oral
supplementation in preventing exudative age-related macular degeneration (AMD). Design …

Purpose Genetic and epidemiologic studies have shown that lipid genes and high-density
lipoproteins (HDLs) are implicated in age-related macular degeneration (AMD). We studied …

METHODS Patients: Two independent series of patients affected with exudative AMD were
screened. Series F consisted of patients with a positive family history of exudative AMD …

Accurate and consistent variant classification is imperative for incorporation of rapidly
developing sequencing technologies into genomic medicine for improved patient care. An …

Background Recessive LPIN1 mutations were identified as a cause of severe
rhabdomyolysis in pediatric patients. The human lipin family includes two other closely …