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5. Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters. Chevet D; Ramée MP; Le Pogamp P; Thomas R; Garré M; Alcindor LG Nephron; 1978; 20(4):212-9. PubMed ID: 634418 [TBL] [Abstract][Full Text] [Related]
6. Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes. Albers JJ; Chen CH; Adolphson J; Sakuma M; Kodama T; Akanuma Y Hum Genet; 1982; 62(1):82-5. PubMed ID: 7152525 [TBL] [Abstract][Full Text] [Related]
7. A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency. Humphries SE; Chaves ME; Tata F; Lima VL; Owen JS; Borysiewicz LK; Catapano A; Vergani C; Gjone E; Clemens MR Clin Sci (Lond); 1988 Jan; 74(1):91-6. PubMed ID: 3338256 [TBL] [Abstract][Full Text] [Related]
8. Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Frohlich J; Hon K; McLeod R Am J Hum Genet; 1982 Jan; 34(1):65-72. PubMed ID: 6805319 [TBL] [Abstract][Full Text] [Related]
9. Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. Albers JJ; Chen C; Adolphson JL Hum Genet; 1981; 58(3):306-9. PubMed ID: 7327552 [TBL] [Abstract][Full Text] [Related]
10. 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]
12. Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway. Gjone E; Blomhoff JP; Holme R; Hovig T; Olaisen B; Skarbøvik AJ; Teisberg P Acta Med Scand; 1981; 210(1-2):3-6. PubMed ID: 7293825 [TBL] [Abstract][Full Text] [Related]
13. [Both the enzymatic defect and the localization of the genetic defect has been clarified in the metabolic disease lecithin cholesterol acetyltransferase deficiency]. Hamnström B Lakartidningen; 1983 Jun; 80(24):2490-3. PubMed ID: 6888097 [No Abstract] [Full Text] [Related]
14. [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]
15. Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. Imbasciati E; Paties C; Scarpioni L; Mihatsch MJ Am J Nephrol; 1986; 6(1):66-70. PubMed ID: 3963061 [TBL] [Abstract][Full Text] [Related]
16. Familial lecithin: cholesterol acyltransferase deficiency complicated with unconjugated hyperbilirubinemia and peripheral neuropathy. The first reported cases in the Far East. Iwamoto A; Naito C; Teramoto T; Kato H; Kako M; Kariya T; Shimizu T; Oka H; Oda T Acta Med Scand; 1978; 204(3):219-27. PubMed ID: 211803 [TBL] [Abstract][Full Text] [Related]
17. Hereditary lecithin-cholesterol acyltransferase deficiency and Bloom syndrome in the same individual. Shojania AM; McAlpine PJ; Ray M Am J Med Genet; 1983 Mar; 14(3):479-85. PubMed ID: 6859101 [TBL] [Abstract][Full Text] [Related]