Article
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Journal of lipid research - 1 Mar 2022
Vitali Cecilia, Bajaj Archna, Nguyen Christina, Schnall Jill, Chen Jinbo, Stylianou Kostas, Rader Daniel J, Cuchel Marina
Abstract excerpt
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). No treatment is currently available for FLD, but novel therapeutics are under development. Furthermore, although biomarkers of LCAT deficiency have been identified, their...
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