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2. Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. Carlson LA; Holmquist L Acta Med Scand; 1985; 218(2):189-96. PubMed ID: 4061122 [TBL] [Abstract][Full Text] [Related]
4. Japanese family with a deficiency of lecithin:cholesterol acyltransferase (LCAT). Naito M; Maeda E; Yoshino G; Kasuga M; Iguchi A; Kuzuya F Intern Med; 1994 Nov; 33(11):677-82. PubMed ID: 7849380 [TBL] [Abstract][Full Text] [Related]
5. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). Klein HG; Lohse P; Pritchard PH; Bojanovski D; Schmidt H; Brewer HB J Clin Invest; 1992 Feb; 89(2):499-506. PubMed ID: 1737840 [TBL] [Abstract][Full Text] [Related]
6. Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. Tobar HE; Cataldo LR; González T; Rodríguez R; Serrano V; Arteaga A; Álvarez-Mercado A; Lagos CF; Vicuña L; Miranda JP; Pereira A; Bravo C; Aguilera CM; Eyheramendy S; Uauy R; Martínez Á; Gil Á; Francone O; Rigotti A; Santos JL Lipids Health Dis; 2019 Jun; 18(1):132. PubMed ID: 31164121 [TBL] [Abstract][Full Text] [Related]
8. A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. Funke H; von Eckardstein A; Pritchard PH; Karas M; Albers JJ; Assmann G J Clin Invest; 1991 Jan; 87(1):371-6. PubMed ID: 1898657 [TBL] [Abstract][Full Text] [Related]
9. Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. Carlson LA Eur J Clin Invest; 1982 Feb; 12(1):41-53. PubMed ID: 6802651 [TBL] [Abstract][Full Text] [Related]
10. [Corneal opacity as the leading symptom of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency. Case report and a review of the literature]. Weidle EG; Lisch W Klin Monbl Augenheilkd; 1987 Mar; 190(3):182-7. PubMed ID: 3586537 [TBL] [Abstract][Full Text] [Related]
11. A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. Koster H; Savoldelli M; Dumon MF; Dubourg L; Clerc M; Pouliquen Y Cornea; 1992 Sep; 11(5):452-64. PubMed ID: 1424675 [TBL] [Abstract][Full Text] [Related]
14. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Calabresi L; Pisciotta L; Costantin A; Frigerio I; Eberini I; Alessandrini P; Arca M; Bon GB; Boscutti G; Busnach G; Frascà G; Gesualdo L; Gigante M; Lupattelli G; Montali A; Pizzolitto S; Rabbone I; Rolleri M; Ruotolo G; Sampietro T; Sessa A; Vaudo G; Cantafora A; Veglia F; Calandra S; Bertolini S; Franceschini G Arterioscler Thromb Vasc Biol; 2005 Sep; 25(9):1972-8. PubMed ID: 15994445 [TBL] [Abstract][Full Text] [Related]
15. Familial lecithin: cholesterol acyltransferase (LCAT) deficiency. An updated review Spring 1988. Gjone E Ophthalmic Paediatr Genet; 1988 Nov; 9(3):167-9. PubMed ID: 3068599 [TBL] [Abstract][Full Text] [Related]
16. Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects. Carlson LA; Holmquist L Acta Med Scand; 1985; 218(2):197-205. PubMed ID: 4061123 [TBL] [Abstract][Full Text] [Related]
17. Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. Holmquist L; Carlson LA Acta Med Scand; 1987; 222(1):15-21. PubMed ID: 3630774 [TBL] [Abstract][Full Text] [Related]
18. Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent. Frohlich J; Godolphin WJ; Reeve CE; Evelyn KA Scand J Clin Lab Invest Suppl; 1978; 150():156-61. PubMed ID: 746343 [TBL] [Abstract][Full Text] [Related]