A new case of familial LCAT deficiency

C. Vergani, A. L. Catapano, P. Roma, G. Giudici

Research output: Contribution to journalArticlepeer-review


Twenty-eight patients with familial lecithin:cholesterol acyltransferase deficiency have been reported to date. We report a new Italian case who presents the clinical and biochemical characteristics of the disease. Typical disc-shaped high density lipoproteins (d = 1.063-1.21 g/ml) were detected by electron microscopy. An abnormal distribution of apolipoproteins in the different lipoprotein fractions was found by sodium dodecyl sulphate polyacrylamide electrophoresis.

Original languageEnglish
Pages (from-to)173-176
Number of pages4
JournalActa Medica Scandinavica
Issue number2
Publication statusPublished - 1983

ASJC Scopus subject areas

  • Internal Medicine


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