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
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
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
[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].
Segawa M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy.
Dimick SM et al.
Journal of Clinical Lipidology, 0
Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.
Miyata M et al.
Journal of Clinical Lipidology, 0
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