Associated Papers
A novel pathogenic variant in LCAT causing FLD. A case report.
Goñi Ros N et al.
Acta Clinica Belgica, 2022
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
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: a family study.
Posadas-Sánchez R et al.
International Journal of Molecular Medicine, 2014
Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.
Argyropoulos G et al.
Journal of Lipid Research, 1998
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