ReviewJournal of clinical lipidology
Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.
Review in Journal of clinical lipidology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.Journal of lipid research · 2022Pooled it
- LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.Lipids in health and disease · 2021Pooled it
- Loss of LCAT function aggravates metabolic-associated steatohepatitis (MASH) in golden Syrian hamster.Clinical science (London, England : 1979) · 2025Article
- Rescue of Familial Lecithin:Cholesterol Acyltranferase Deficiency Mutations with an Allosteric Activator.Molecular pharmacology · 2024Article
- Selective Correction of Genotype Yield by Probucol in HDL-Deficient Mice Propagation.Journal of atherosclerosis and thrombosis · 2020Article
- Corneal Clouding in a Young Woman With Low HDL Cholesterol.JACC. Case reports · 2019Article
- Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.Journal of lipid research · 2018Article
- HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.Nature reviews. Cardiology · 2018Review
- A Systematic Investigation of Structure/Function Requirements for the Apolipoprotein A-I/Lecithin Cholesterol Acyltransferase Interaction Loop of High-density Lipoprotein.The Journal of biological chemistry · 2016Article
- Structural Insights into High Density Lipoprotein: Old Models and New Facts.Frontiers in pharmacology · 2015Review
- Diagnosis and treatment of high density lipoprotein deficiency.Progress in cardiovascular diseasesReview
- Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.Journal of clinical lipidologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundA case of homozygous familial lecithin:cholesterol acyltransferase (LCAT) deficiency with a novel homozygous LCAT missense mutation (replacement of methionine by arginine at position 293 in the amino acid sequence of the LCAT protein) is reported. METHODS AND
resultsThe probable diagnosis was suggested by findings of marked high density lipoprotein (HDL) deficiency, corneal opacification, anemia, and renal insufficiency. The diagnosis was confirmed by two dimensional gel electrophoresis of HDL, the measurement of free and esterified cholesterol, and sequencing of the LCAT gene.
conclusionsIn our view the most important aspects of therapy to prevent the kidney disease that these patients develop is careful control of blood pressure and lifestyle measures to optimize non HDL lipoproteins. In the future replacement therapy by gene transfer or other methods may become available.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.