FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1279433079> ?p ?o ?g. }

• W1279433079 endingPage "178" @default.
• W1279433079 startingPage "171" @default.
• W1279433079 abstract "Lesch-Nyhan syndrome was first described over thirty years ago. The original patient was a 4-year-old boy with neurological abnormalities as well as haematuria. Crystals in his urine were identified and confirmed to be uric acid. The massive excretion of this purine led to metabolic studies using isotopically labelled uric acid to study turnover rates. Clues to the site of the enzyme defect resulted from studies with the immunosuppressive agent azathioprine, which normally causes uric acid concentrations to fall in blood and urine but was without effect in a Lesch-Nyhan patient. A deficiency of hypoxanthine phosphoribosyltransferase (HPRT) activity explained this observation in Lesch-Nyhan patients. Subsequent studies have indicated that the degree of HPRT deficiency appears to determine the severity of the disease. Molecular studies have shown that most families carry a unique mutation. Attempts are being made to correlate the type and site of a specific mutation with a particular phenotype." @default.
• W1279433079 created "2016-06-24" @default.
• W1279433079 creator A5002216768 @default.
• W1279433079 date "1997-06-01" @default.
• W1279433079 modified "2023-10-14" @default.
• W1279433079 title "The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism" @default.
• W1279433079 cites W1836049300 @default.
• W1279433079 cites W1968935393 @default.
• W1279433079 cites W1976566711 @default.
• W1279433079 cites W2016401635 @default.
• W1279433079 cites W2020629398 @default.
• W1279433079 cites W2050527189 @default.
• W1279433079 cites W2060570369 @default.
• W1279433079 cites W2060579897 @default.
• W1279433079 cites W2076574768 @default.
• W1279433079 cites W2093488483 @default.
• W1279433079 cites W2093908800 @default.
• W1279433079 cites W2120613619 @default.
• W1279433079 cites W2432428067 @default.
• W1279433079 cites W2503925635 @default.
• W1279433079 doi "https://doi.org/10.1023/a:1005348504512" @default.
• W1279433079 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9211189" @default.
• W1279433079 hasPublicationYear "1997" @default.
• W1279433079 type Work @default.
• W1279433079 sameAs 1279433079 @default.
• W1279433079 citedByCount "115" @default.
• W1279433079 countsByYear W12794330792012 @default.
• W1279433079 countsByYear W12794330792014 @default.
• W1279433079 countsByYear W12794330792015 @default.
• W1279433079 countsByYear W12794330792016 @default.
• W1279433079 countsByYear W12794330792017 @default.
• W1279433079 countsByYear W12794330792018 @default.
• W1279433079 countsByYear W12794330792019 @default.
• W1279433079 countsByYear W12794330792020 @default.
• W1279433079 countsByYear W12794330792021 @default.
• W1279433079 countsByYear W12794330792022 @default.
• W1279433079 countsByYear W12794330792023 @default.
• W1279433079 crossrefType "journal-article" @default.
• W1279433079 hasAuthorship W1279433079A5002216768 @default.
• W1279433079 hasConcept C104317684 @default.
• W1279433079 hasConcept C126322002 @default.
• W1279433079 hasConcept C134018914 @default.
• W1279433079 hasConcept C143065580 @default.
• W1279433079 hasConcept C169586020 @default.
• W1279433079 hasConcept C181199279 @default.
• W1279433079 hasConcept C2776476023 @default.
• W1279433079 hasConcept C2777766392 @default.
• W1279433079 hasConcept C2779646400 @default.
• W1279433079 hasConcept C2779721657 @default.
• W1279433079 hasConcept C2779881121 @default.
• W1279433079 hasConcept C2780026642 @default.
• W1279433079 hasConcept C2780402116 @default.
• W1279433079 hasConcept C2781116151 @default.
• W1279433079 hasConcept C2909697302 @default.
• W1279433079 hasConcept C54355233 @default.
• W1279433079 hasConcept C55493867 @default.
• W1279433079 hasConcept C71924100 @default.
• W1279433079 hasConcept C78179603 @default.
• W1279433079 hasConcept C86803240 @default.
• W1279433079 hasConceptScore W1279433079C104317684 @default.
• W1279433079 hasConceptScore W1279433079C126322002 @default.
• W1279433079 hasConceptScore W1279433079C134018914 @default.
• W1279433079 hasConceptScore W1279433079C143065580 @default.
• W1279433079 hasConceptScore W1279433079C169586020 @default.
• W1279433079 hasConceptScore W1279433079C181199279 @default.
• W1279433079 hasConceptScore W1279433079C2776476023 @default.
• W1279433079 hasConceptScore W1279433079C2777766392 @default.
• W1279433079 hasConceptScore W1279433079C2779646400 @default.
• W1279433079 hasConceptScore W1279433079C2779721657 @default.
• W1279433079 hasConceptScore W1279433079C2779881121 @default.
• W1279433079 hasConceptScore W1279433079C2780026642 @default.
• W1279433079 hasConceptScore W1279433079C2780402116 @default.
• W1279433079 hasConceptScore W1279433079C2781116151 @default.
• W1279433079 hasConceptScore W1279433079C2909697302 @default.
• W1279433079 hasConceptScore W1279433079C54355233 @default.
• W1279433079 hasConceptScore W1279433079C55493867 @default.
• W1279433079 hasConceptScore W1279433079C71924100 @default.
• W1279433079 hasConceptScore W1279433079C78179603 @default.
• W1279433079 hasConceptScore W1279433079C86803240 @default.
• W1279433079 hasIssue "2" @default.
• W1279433079 hasLocation W12794330791 @default.
• W1279433079 hasLocation W12794330792 @default.
• W1279433079 hasOpenAccess W1279433079 @default.
• W1279433079 hasPrimaryLocation W12794330791 @default.
• W1279433079 hasRelatedWork W1127154104 @default.
• W1279433079 hasRelatedWork W1968702554 @default.
• W1279433079 hasRelatedWork W1978373375 @default.
• W1279433079 hasRelatedWork W1984051438 @default.
• W1279433079 hasRelatedWork W2025580330 @default.
• W1279433079 hasRelatedWork W2033790992 @default.
• W1279433079 hasRelatedWork W2035337311 @default.
• W1279433079 hasRelatedWork W2111583808 @default.
• W1279433079 hasRelatedWork W2315910672 @default.
• W1279433079 hasRelatedWork W249790747 @default.
• W1279433079 hasVolume "20" @default.
• W1279433079 isParatext "false" @default.
• W1279433079 isRetracted "false" @default.
• W1279433079 magId "1279433079" @default.

• next