Associated Papers
Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.
Anlas O et al.
Biochemical Genetics, 2025
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C et al.
Journal of Lipid Research, 2022
35065092 (PubMed )
Supplement: mmc1.pdf
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R et al.
Lipids in Health and Disease, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency.
Lamiquiz-Moneo I et al.
Journal of Clinical Medicine, 2019
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Three arginine residues in apolipoprotein A-I are critical for activation of lecithin:cholesterol acyltransferase.
Roosbeek S et al.
Journal of Lipid Research, 2001
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