Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022891719> ?p ?o ?g. }
Showing items 1 to 52 of
52
with 100 items per page.
- W2022891719 endingPage "881" @default.
- W2022891719 startingPage "881" @default.
- W2022891719 abstract "To the Editor.—— The recent article by Burmeister et al1demonstrated the use of the intravenous fructose tolerance test in establishing the diagnosis of hereditary fructose intolerance (HFI). However, the administration of fructose, deliberately or inadvertently, to such patients is not without hazard (as in the reported case) and on more than one occasion has proven fatal.2,3A less hazardous diagnostic test for HFI would, therefore, be welcome. Recent advances in understanding the molecular pathogenesis of HFI offer the possibility of diagnosis by direct molecular analysis of human genes. Hereditary fructose intolerance is transmitted in an autosomal recessive manner and results from a deficiency of the enzyme aldolase B that normally cleaves fructose-1-phosphate. Characterization of the gene for aldolase B, which is located on chromosome 9, has shown two common missense point mutations in HFI (designated A149P and A174D) that result in catalytic deficiency of aldolase B. Most" @default.
- W2022891719 created "2016-06-24" @default.
- W2022891719 creator A5020389640 @default.
- W2022891719 date "1992-04-01" @default.
- W2022891719 modified "2023-09-23" @default.
- W2022891719 title "Molecular Diagnosis of Hereditary Fructose Intolerance" @default.
- W2022891719 cites W1988381637 @default.
- W2022891719 cites W2027246298 @default.
- W2022891719 cites W2116876328 @default.
- W2022891719 cites W2252600280 @default.
- W2022891719 doi "https://doi.org/10.1001/archinte.1992.00400160161039" @default.
- W2022891719 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1558455" @default.
- W2022891719 hasPublicationYear "1992" @default.
- W2022891719 type Work @default.
- W2022891719 sameAs 2022891719 @default.
- W2022891719 citedByCount "0" @default.
- W2022891719 crossrefType "journal-article" @default.
- W2022891719 hasAuthorship W2022891719A5020389640 @default.
- W2022891719 hasConcept C185592680 @default.
- W2022891719 hasConcept C2776970464 @default.
- W2022891719 hasConcept C54355233 @default.
- W2022891719 hasConcept C55493867 @default.
- W2022891719 hasConcept C71924100 @default.
- W2022891719 hasConcept C86803240 @default.
- W2022891719 hasConceptScore W2022891719C185592680 @default.
- W2022891719 hasConceptScore W2022891719C2776970464 @default.
- W2022891719 hasConceptScore W2022891719C54355233 @default.
- W2022891719 hasConceptScore W2022891719C55493867 @default.
- W2022891719 hasConceptScore W2022891719C71924100 @default.
- W2022891719 hasConceptScore W2022891719C86803240 @default.
- W2022891719 hasIssue "4" @default.
- W2022891719 hasLocation W20228917191 @default.
- W2022891719 hasLocation W20228917192 @default.
- W2022891719 hasOpenAccess W2022891719 @default.
- W2022891719 hasPrimaryLocation W20228917191 @default.
- W2022891719 hasRelatedWork W1489783725 @default.
- W2022891719 hasRelatedWork W1506200166 @default.
- W2022891719 hasRelatedWork W2039318446 @default.
- W2022891719 hasRelatedWork W2048182022 @default.
- W2022891719 hasRelatedWork W2080531066 @default.
- W2022891719 hasRelatedWork W2604872355 @default.
- W2022891719 hasRelatedWork W2748952813 @default.
- W2022891719 hasRelatedWork W2899084033 @default.
- W2022891719 hasRelatedWork W3032375762 @default.
- W2022891719 hasRelatedWork W3108674512 @default.
- W2022891719 hasVolume "152" @default.
- W2022891719 isParatext "false" @default.
- W2022891719 isRetracted "false" @default.
- W2022891719 magId "2022891719" @default.
- W2022891719 workType "article" @default.