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5. Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review. Shoji K; Morita H; Ishigaki Y; Rivard CJ; Takayasu M; Nakayama K; Nakayama T; Inoue Y; Ayaki M; Yoshimura A Clin Nephrol; 2011 Oct; 76(4):323-8. PubMed ID: 21955868 [TBL] [Abstract][Full Text] [Related]
6. [LCAT deficiency: a nephrological diagnosis]. Boscutti G; Calabresi L; Pizzolitto S; Boer E; Bosco M; Mattei PL; Martone M; Milutinovic N; Berbecar D; Beltram E; Franceschini G G Ital Nefrol; 2011; 28(4):369-82. PubMed ID: 21809306 [TBL] [Abstract][Full Text] [Related]
7. 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]
9. Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop). Guerin M; Dachet C; Goulinet S; Chevet D; Dolphin PJ; Chapman MJ; Rouis M Atherosclerosis; 1997 May; 131(1):85-95. PubMed ID: 9180249 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred. Fountoulakis N; Lioudaki E; Lygerou D; Dermitzaki EK; Papakitsou I; Kounali V; Holleboom AG; Stratigis S; Belogianni C; Syngelaki P; Stratakis S; Evangeliou A; Gakiopoulou H; Kuivenhoven JA; Wevers R; Dafnis E; Stylianou K Am J Kidney Dis; 2019 Oct; 74(4):510-522. PubMed ID: 31103331 [TBL] [Abstract][Full Text] [Related]