Literature DB >> 7331892

Familial lecithin-cholesterol acyltransferase deficiency in four Norwegian Families. Evidence for low levels of a functionally defective enzyme.

J J Albers, E Gjone, J L Adolphson, C H Chen, P Teisberg, H Torsvik.   

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Year:  1981        PMID： 7331892     DOI： 10.1111/j.0954-6820.1981.tb09849.x

Source DB:  PubMed          Journal:  Acta Med Scand        ISSN： 0001-6101


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  3 in total

1.  Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes.

Authors:  J J Albers; C H Chen; J Adolphson; M Sakuma; T Kodama; Y Akanuma
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

2.  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).

Authors:  H G Klein; P Lohse; P H Pritchard; D Bojanovski; H Schmidt; H B Brewer
Journal:  J Clin Invest       Date:  1992-02       Impact factor: 14.808

Review 3.  A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Authors:  Cecilia Vitali; Archna Bajaj; Christina Nguyen; Jill Schnall; Jinbo Chen; Kostas Stylianou; Daniel J Rader; Marina Cuchel
Journal:  J Lipid Res       Date:  2022-01-20       Impact factor: 5.922
  3 in total

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