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6. 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]
9. [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]
10. Point mutation (C to T) of the LCAT gene resulting in A140C substitution. Hirashio S; Izumi K; Ueno T; Arakawa T; Naito T; Taguchi T; Yorioka N J Atheroscler Thromb; 2010 Dec; 17(12):1297-301. PubMed ID: 20938102 [TBL] [Abstract][Full Text] [Related]
11. Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency. Viestenz A; Schlötzer-Schrehardt U; Hofmann-Rummelt C; Seitz B; Küchle M Cornea; 2002 Nov; 21(8):834-7. PubMed ID: 12410048 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. LCAT deficiency as a cause of proteinuria and corneal opacification. Morales E; Alonso M; Sarmiento B; Morales M BMJ Case Rep; 2018 Mar; 2018():. PubMed ID: 29535099 [No Abstract] [Full Text] [Related]
14. A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. Dimick SM; Sallee B; Asztalos BF; Pritchard PH; Frohlich J; Schaefer EJ J Clin Lipidol; 2014; 8(2):223-30. PubMed ID: 24636183 [TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency. Wang XL; Osuga J; Tazoe F; Okada K; Nagashima S; Takahashi M; Ohshiro T; Bayasgalan T; Yagyu H; Okada K; Ishibashi S J Atheroscler Thromb; 2011; 18(8):713-9. PubMed ID: 21597230 [TBL] [Abstract][Full Text] [Related]
16. Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. Hörl G; Kroisel PM; Wagner E; Tiran B; Petek E; Steyrer E Atherosclerosis; 2006 Jul; 187(1):101-9. PubMed ID: 16216249 [TBL] [Abstract][Full Text] [Related]
17. A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis. Abu Dail Y; Flockerzi E; Flockerzi F; Matthaei M; Cursiefen C; Seitz B Cornea; 2024 Nov; 43(11):1427-1430. PubMed ID: 39177400 [TBL] [Abstract][Full Text] [Related]
18. Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. Teisberg P; Gjone E; Olaisen B Ann Hum Genet; 1975 Jan; 38(3):327-31. PubMed ID: 806250 [TBL] [Abstract][Full Text] [Related]
19. Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144. Teh EM; Chisholm JW; Dolphin PJ; Pouliquen Y; Savoldelli M; de Gennes JL; Benlian P Atherosclerosis; 1999 Sep; 146(1):141-51. PubMed ID: 10487497 [TBL] [Abstract][Full Text] [Related]
20. A novel pathogenic variant in LCAT causing FLD. A case report. Goñi Ros N; González-Tarancón R; Sienes Bailo P; Salvador-Ruperez E; Puzo Bayod M; Puzo Foncillas J Acta Clin Belg; 2022 Dec; 77(6):970-975. PubMed ID: 34789074 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]