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
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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
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
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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