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Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Current opinion in lipidology - 1 Aug 2020

Pavanello Chiara, Calabresi Laura

Abstract excerpt

PURPOSE OF REVIEW: Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers. RECENT FINDINGS: Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. The...

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PMID: 32618730
DOI: 10.1097/MOL.0000000000000697

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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