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
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Lipoprotein distribution and serum concentrations of 7α-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism.
Steiner C et al.
Clinical Science (london, England : 1979), 2012
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
Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.
Daniil G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
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