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Article

[LCAT deficiency: a nephrological diagnosis].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 1 Jan 2000

Boscutti Giuliano, Calabresi Laura, Pizzolitto Stefano, Boer Emanuela, Bosco Manuela, Mattei Piero Luigi, Martone Massimiliano, Milutinovic Neva, Berbecar Dorina, Beltram Elisabetta, Franceschini Guido

Abstract excerpt

A genetic mendelian autosomal recessive condition of deficiency of lecithin- cholesterol acyltransferase (LCAT) can produce two different diseases: one highly interesting nephrologic picture of complete enzymatic deficiency (lecithin:cholesterol acyltransferase deficiency; OMIM ID #245900; FLD), characterized by the association of dyslipidemia, corneal opacities, anemia and progressive nephropathy; and a partial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21809306

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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