Matches in SemOpenAlex for { <https://semopenalex.org/work/W59111211> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W59111211 endingPage "90" @default.
- W59111211 startingPage "1488" @default.
- W59111211 abstract "Gilbert's syndrome consists of a mild unconjugated hyperbilirubinemia occurring in the absence of liver disease or haemolysis. Total plasma bilirubin can be as high as 80 mumol/l and mild intermittent jaundice does occur. The inheritance pattern is probably autosomal recessive. It has been estimated that some 10-15% of the Western population suffers from Gilbert's syndrome. Bilirubin-uridinediphosphate-glucuronosyltransferase (UGT1A1) is the only enzyme involved in the conjugation of bilirubin. In patients with Gilbert's syndrome, hepatic glucuronidation by UGT1A1 is reduced to about 30% of normal. In Western populations a variant TATAA element in the upstream promotor region of the UGT1A1 gene is firmly associated with the disease. Crigler-Najjar types I and II are autosomal recessive disorders associated with near (type II) or complete absence (type I) of UGT1A1 enzyme activity. There is a persistent unconjugated hyperbilirubinemia (range 300-850 mumol/l) with the plasma concentrations being higher in type I than in type II. Genetic mutations in exon 1-5 cause both Crigler-Najjar type I and type II." @default.
- W59111211 created "2016-06-24" @default.
- W59111211 creator A5038195774 @default.
- W59111211 creator A5048880494 @default.
- W59111211 creator A5072837175 @default.
- W59111211 date "2002-08-10" @default.
- W59111211 modified "2023-10-18" @default.
- W59111211 title "[From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]." @default.
- W59111211 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12198827" @default.
- W59111211 hasPublicationYear "2002" @default.
- W59111211 type Work @default.
- W59111211 sameAs 59111211 @default.
- W59111211 citedByCount "1" @default.
- W59111211 countsByYear W591112112019 @default.
- W59111211 crossrefType "journal-article" @default.
- W59111211 hasAuthorship W59111211A5038195774 @default.
- W59111211 hasAuthorship W59111211A5048880494 @default.
- W59111211 hasAuthorship W59111211A5072837175 @default.
- W59111211 hasConcept C104317684 @default.
- W59111211 hasConcept C126322002 @default.
- W59111211 hasConcept C134018914 @default.
- W59111211 hasConcept C181199279 @default.
- W59111211 hasConcept C203014093 @default.
- W59111211 hasConcept C2776365762 @default.
- W59111211 hasConcept C2777513400 @default.
- W59111211 hasConcept C2778456037 @default.
- W59111211 hasConcept C2779907587 @default.
- W59111211 hasConcept C2781278898 @default.
- W59111211 hasConcept C2910801743 @default.
- W59111211 hasConcept C2911188197 @default.
- W59111211 hasConcept C36823959 @default.
- W59111211 hasConcept C54355233 @default.
- W59111211 hasConcept C55493867 @default.
- W59111211 hasConcept C71924100 @default.
- W59111211 hasConcept C86803240 @default.
- W59111211 hasConcept C87644729 @default.
- W59111211 hasConceptScore W59111211C104317684 @default.
- W59111211 hasConceptScore W59111211C126322002 @default.
- W59111211 hasConceptScore W59111211C134018914 @default.
- W59111211 hasConceptScore W59111211C181199279 @default.
- W59111211 hasConceptScore W59111211C203014093 @default.
- W59111211 hasConceptScore W59111211C2776365762 @default.
- W59111211 hasConceptScore W59111211C2777513400 @default.
- W59111211 hasConceptScore W59111211C2778456037 @default.
- W59111211 hasConceptScore W59111211C2779907587 @default.
- W59111211 hasConceptScore W59111211C2781278898 @default.
- W59111211 hasConceptScore W59111211C2910801743 @default.
- W59111211 hasConceptScore W59111211C2911188197 @default.
- W59111211 hasConceptScore W59111211C36823959 @default.
- W59111211 hasConceptScore W59111211C54355233 @default.
- W59111211 hasConceptScore W59111211C55493867 @default.
- W59111211 hasConceptScore W59111211C71924100 @default.
- W59111211 hasConceptScore W59111211C86803240 @default.
- W59111211 hasConceptScore W59111211C87644729 @default.
- W59111211 hasIssue "32" @default.
- W59111211 hasLocation W591112111 @default.
- W59111211 hasOpenAccess W59111211 @default.
- W59111211 hasPrimaryLocation W591112111 @default.
- W59111211 hasRelatedWork W1899310373 @default.
- W59111211 hasRelatedWork W1977924630 @default.
- W59111211 hasRelatedWork W2001669710 @default.
- W59111211 hasRelatedWork W2008530488 @default.
- W59111211 hasRelatedWork W2024049424 @default.
- W59111211 hasRelatedWork W2072336373 @default.
- W59111211 hasRelatedWork W2088812275 @default.
- W59111211 hasRelatedWork W2141706567 @default.
- W59111211 hasRelatedWork W2322536880 @default.
- W59111211 hasRelatedWork W59111211 @default.
- W59111211 hasVolume "146" @default.
- W59111211 isParatext "false" @default.
- W59111211 isRetracted "false" @default.
- W59111211 magId "59111211" @default.
- W59111211 workType "article" @default.