Associated Papers
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.
Ciro Acosta S et al.
The Application of Clinical Genetics, 2024
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
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?
de Serpa Brandão RMS et al.
Molecular Genetics and Metabolism Reports, 2022
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R et al.
Lipids in Health and Disease, 2021
Lecithin:cholesterol acyltransferase: symposium on 50 years of biomedical research from its discovery to latest findings.
Norum KR et al.
Journal of Lipid Research, 2020
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
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.
Castro-Ferreira I et al.
Jimd Reports, 2018
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
Holleboom AG et al.
Human Mutation, 2011
Reconstituted high-density lipoprotein shortens cardiac repolarization.
Den Ruijter HM et al.
Journal of the American College of Cardiology, 2011
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.
Pisciotta L et al.
Atherosclerosis, 2005
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