Article

Lecithin: cholesterol acyltransferase deficiency and fish-eye disease

1991-04-01

Abstract excerpt

Familial lecithin: cholesterol acyltransferase (LCAT) deficiency and fish-eye disease are rare autosomal recessively inherited disorders, which have in common severely reduced plasma concentrations of high-density lipoprotein cholesterol. Although both conditions originate from defects at the LCAT gene, their clinical and biochemical phenotypic expression is highly variable, presumably because of differently impai...

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Literature Corpus work: cdb1e725-6681-5171-8bb6-eac5f8e11eed
DOI: 10.1097/00041433-199104000-00009

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