Matches in SemOpenAlex for { <https://semopenalex.org/work/W2113670317> ?p ?o ?g. }
- W2113670317 endingPage "230" @default.
- W2113670317 startingPage "228" @default.
- W2113670317 abstract "Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from unrelated British parents had infarcts when aged 49 and 73 years but was asymptomatic at age 81 years, with plasma cholesterol 4.3-7.1 mmol/litre, triglycerides 1.8-2.2 mmol/litre, HDL cholesterol < 0.1 mmol/litre, apolipoprotein A-I < 0.16 g/litre, lipoprotein(a) 0.61 g/litre. Cholesterol esterification was impaired using HDL-3 and A-I proteoliposomes but not using VLDL/IDL/LDL. The findings are those of LCAT deficiency with the classic fish-eye disease defect. Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene. This patient was a double heterozygote for this mutation and a second new incompletely defined mutation affecting LCAT expression as defined by reduced mass and activity in plasma." @default.
- W2113670317 created "2016-06-24" @default.
- W2113670317 creator A5011158653 @default.
- W2113670317 creator A5030736805 @default.
- W2113670317 creator A5037349846 @default.
- W2113670317 creator A5044158736 @default.
- W2113670317 creator A5045767301 @default.
- W2113670317 creator A5056786874 @default.
- W2113670317 creator A5090966761 @default.
- W2113670317 date "1999-03-01" @default.
- W2113670317 modified "2023-09-27" @default.
- W2113670317 title "A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression" @default.
- W2113670317 cites W1995123501 @default.
- W2113670317 cites W2032025152 @default.
- W2113670317 cites W2062499513 @default.
- W2113670317 cites W2161615797 @default.
- W2113670317 cites W2345589838 @default.
- W2113670317 cites W2398093727 @default.
- W2113670317 cites W2416892932 @default.
- W2113670317 doi "https://doi.org/10.1136/jcp.52.3.228" @default.
- W2113670317 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/501085" @default.
- W2113670317 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10450185" @default.
- W2113670317 hasPublicationYear "1999" @default.
- W2113670317 type Work @default.
- W2113670317 sameAs 2113670317 @default.
- W2113670317 citedByCount "17" @default.
- W2113670317 countsByYear W21136703172013 @default.
- W2113670317 countsByYear W21136703172016 @default.
- W2113670317 countsByYear W21136703172018 @default.
- W2113670317 countsByYear W21136703172020 @default.
- W2113670317 countsByYear W21136703172021 @default.
- W2113670317 countsByYear W21136703172022 @default.
- W2113670317 crossrefType "journal-article" @default.
- W2113670317 hasAuthorship W2113670317A5011158653 @default.
- W2113670317 hasAuthorship W2113670317A5030736805 @default.
- W2113670317 hasAuthorship W2113670317A5037349846 @default.
- W2113670317 hasAuthorship W2113670317A5044158736 @default.
- W2113670317 hasAuthorship W2113670317A5045767301 @default.
- W2113670317 hasAuthorship W2113670317A5056786874 @default.
- W2113670317 hasAuthorship W2113670317A5090966761 @default.
- W2113670317 hasBestOaLocation W21136703171 @default.
- W2113670317 hasConcept C104317684 @default.
- W2113670317 hasConcept C126322002 @default.
- W2113670317 hasConcept C134018914 @default.
- W2113670317 hasConcept C149011108 @default.
- W2113670317 hasConcept C153471976 @default.
- W2113670317 hasConcept C180754005 @default.
- W2113670317 hasConcept C2777704780 @default.
- W2113670317 hasConcept C2777910003 @default.
- W2113670317 hasConcept C2778163477 @default.
- W2113670317 hasConcept C2779564620 @default.
- W2113670317 hasConcept C2779982054 @default.
- W2113670317 hasConcept C2780072125 @default.
- W2113670317 hasConcept C2780541478 @default.
- W2113670317 hasConcept C37002583 @default.
- W2113670317 hasConcept C54355233 @default.
- W2113670317 hasConcept C55493867 @default.
- W2113670317 hasConcept C62746215 @default.
- W2113670317 hasConcept C71924100 @default.
- W2113670317 hasConcept C8243546 @default.
- W2113670317 hasConcept C86803240 @default.
- W2113670317 hasConceptScore W2113670317C104317684 @default.
- W2113670317 hasConceptScore W2113670317C126322002 @default.
- W2113670317 hasConceptScore W2113670317C134018914 @default.
- W2113670317 hasConceptScore W2113670317C149011108 @default.
- W2113670317 hasConceptScore W2113670317C153471976 @default.
- W2113670317 hasConceptScore W2113670317C180754005 @default.
- W2113670317 hasConceptScore W2113670317C2777704780 @default.
- W2113670317 hasConceptScore W2113670317C2777910003 @default.
- W2113670317 hasConceptScore W2113670317C2778163477 @default.
- W2113670317 hasConceptScore W2113670317C2779564620 @default.
- W2113670317 hasConceptScore W2113670317C2779982054 @default.
- W2113670317 hasConceptScore W2113670317C2780072125 @default.
- W2113670317 hasConceptScore W2113670317C2780541478 @default.
- W2113670317 hasConceptScore W2113670317C37002583 @default.
- W2113670317 hasConceptScore W2113670317C54355233 @default.
- W2113670317 hasConceptScore W2113670317C55493867 @default.
- W2113670317 hasConceptScore W2113670317C62746215 @default.
- W2113670317 hasConceptScore W2113670317C71924100 @default.
- W2113670317 hasConceptScore W2113670317C8243546 @default.
- W2113670317 hasConceptScore W2113670317C86803240 @default.
- W2113670317 hasIssue "3" @default.
- W2113670317 hasLocation W21136703171 @default.
- W2113670317 hasLocation W21136703172 @default.
- W2113670317 hasLocation W21136703173 @default.
- W2113670317 hasLocation W21136703174 @default.
- W2113670317 hasOpenAccess W2113670317 @default.
- W2113670317 hasPrimaryLocation W21136703171 @default.
- W2113670317 hasRelatedWork W1976602105 @default.
- W2113670317 hasRelatedWork W1993293200 @default.
- W2113670317 hasRelatedWork W2025648868 @default.
- W2113670317 hasRelatedWork W2081621220 @default.
- W2113670317 hasRelatedWork W2086573354 @default.
- W2113670317 hasRelatedWork W2146537781 @default.
- W2113670317 hasRelatedWork W2189552099 @default.
- W2113670317 hasRelatedWork W2413861530 @default.
- W2113670317 hasRelatedWork W4246187776 @default.
- W2113670317 hasRelatedWork W759178093 @default.