FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020304055> ?p ?o ?g. }

• W2020304055 endingPage "255" @default.
• W2020304055 startingPage "249" @default.
• W2020304055 abstract "Clinical and enzymatic studies on two brothers with severe deficiencies of erythrocyte hypoxanthineguanine phosphoribosyltransferase (HGPRTase) are described, and are compared with similar studies of a classical case of the Lesch-Nyhan syndrome from another family. The two brothers have no neurological abnormalities, only traces of erythrocyte HGPRTase, erythrocyte adenine phosphoribosyltransferase activities approaching the high levels found in the Lesch-Nyhan patient, and similarly raised plasma and urinary concentrations of uric acid. Despite these strong biochemical similarities between the three patients, there were wide differences in the clinical case histories. In both families the enzyme deficiency appeared to be inherited as an X-linked character through asymptomatic carrier females. The relationship of HGPRTase deficiencies to the Lesch-Nyhan syndrome is discussed. Some observations relating to techniques are reported. Cellulose acetate has been found to give much better separations of labelled reaction products in low-level phosphoribosyltransferase assays than filter paper, when used as a supporting medium for electrophoresis. The analysis of hair follicles gives indications of individuals heterozygous for the enzyme deficiency, but the proportion of enzyme-deficient follicles was very small, and the test needs support from studies of other cell types. Using haemolysates, there were signs of a slow indirect conversion of hypoxanthine to inosinic acid, via inosine. Inosine appears to be labelled by a ribosyl-transfer reaction." @default.
• W2020304055 created "2016-06-24" @default.
• W2020304055 creator A5003067352 @default.
• W2020304055 creator A5006880045 @default.
• W2020304055 creator A5007034026 @default.
• W2020304055 creator A5065184622 @default.
• W2020304055 creator A5088214249 @default.
• W2020304055 creator A5089664558 @default.
• W2020304055 date "1975-06-01" @default.
• W2020304055 modified "2023-09-27" @default.
• W2020304055 title "Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency." @default.
• W2020304055 cites W1570900932 @default.
• W2020304055 cites W1597471785 @default.
• W2020304055 cites W1983094030 @default.
• W2020304055 cites W1989947938 @default.
• W2020304055 cites W2008903930 @default.
• W2020304055 cites W2018124448 @default.
• W2020304055 cites W2047490386 @default.
• W2020304055 cites W2069677270 @default.
• W2020304055 cites W2082466576 @default.
• W2020304055 cites W2086047190 @default.
• W2020304055 cites W2092342343 @default.
• W2020304055 cites W2108652885 @default.
• W2020304055 cites W2120613619 @default.
• W2020304055 cites W2134672066 @default.
• W2020304055 cites W2282775512 @default.
• W2020304055 cites W2341384032 @default.
• W2020304055 cites W2396188731 @default.
• W2020304055 doi "https://doi.org/10.1136/ard.34.3.249" @default.
• W2020304055 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1006406" @default.
• W2020304055 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1155984" @default.
• W2020304055 hasPublicationYear "1975" @default.
• W2020304055 type Work @default.
• W2020304055 sameAs 2020304055 @default.
• W2020304055 citedByCount "8" @default.
• W2020304055 crossrefType "journal-article" @default.
• W2020304055 hasAuthorship W2020304055A5003067352 @default.
• W2020304055 hasAuthorship W2020304055A5006880045 @default.
• W2020304055 hasAuthorship W2020304055A5007034026 @default.
• W2020304055 hasAuthorship W2020304055A5065184622 @default.
• W2020304055 hasAuthorship W2020304055A5088214249 @default.
• W2020304055 hasAuthorship W2020304055A5089664558 @default.
• W2020304055 hasBestOaLocation W20203040551 @default.
• W2020304055 hasConcept C104317684 @default.
• W2020304055 hasConcept C126322002 @default.
• W2020304055 hasConcept C134018914 @default.
• W2020304055 hasConcept C143065580 @default.
• W2020304055 hasConcept C181199279 @default.
• W2020304055 hasConcept C2776476023 @default.
• W2020304055 hasConcept C2777610669 @default.
• W2020304055 hasConcept C2777766392 @default.
• W2020304055 hasConcept C2777910003 @default.
• W2020304055 hasConcept C2777991568 @default.
• W2020304055 hasConcept C2779881121 @default.
• W2020304055 hasConcept C2781116151 @default.
• W2020304055 hasConcept C2909697302 @default.
• W2020304055 hasConcept C2909748322 @default.
• W2020304055 hasConcept C2911090574 @default.
• W2020304055 hasConcept C40507961 @default.
• W2020304055 hasConcept C512185932 @default.
• W2020304055 hasConcept C55493867 @default.
• W2020304055 hasConcept C71924100 @default.
• W2020304055 hasConcept C78179603 @default.
• W2020304055 hasConcept C86803240 @default.
• W2020304055 hasConceptScore W2020304055C104317684 @default.
• W2020304055 hasConceptScore W2020304055C126322002 @default.
• W2020304055 hasConceptScore W2020304055C134018914 @default.
• W2020304055 hasConceptScore W2020304055C143065580 @default.
• W2020304055 hasConceptScore W2020304055C181199279 @default.
• W2020304055 hasConceptScore W2020304055C2776476023 @default.
• W2020304055 hasConceptScore W2020304055C2777610669 @default.
• W2020304055 hasConceptScore W2020304055C2777766392 @default.
• W2020304055 hasConceptScore W2020304055C2777910003 @default.
• W2020304055 hasConceptScore W2020304055C2777991568 @default.
• W2020304055 hasConceptScore W2020304055C2779881121 @default.
• W2020304055 hasConceptScore W2020304055C2781116151 @default.
• W2020304055 hasConceptScore W2020304055C2909697302 @default.
• W2020304055 hasConceptScore W2020304055C2909748322 @default.
• W2020304055 hasConceptScore W2020304055C2911090574 @default.
• W2020304055 hasConceptScore W2020304055C40507961 @default.
• W2020304055 hasConceptScore W2020304055C512185932 @default.
• W2020304055 hasConceptScore W2020304055C55493867 @default.
• W2020304055 hasConceptScore W2020304055C71924100 @default.
• W2020304055 hasConceptScore W2020304055C78179603 @default.
• W2020304055 hasConceptScore W2020304055C86803240 @default.
• W2020304055 hasIssue "3" @default.
• W2020304055 hasLocation W20203040551 @default.
• W2020304055 hasLocation W20203040552 @default.
• W2020304055 hasLocation W20203040553 @default.
• W2020304055 hasLocation W20203040554 @default.
• W2020304055 hasOpenAccess W2020304055 @default.
• W2020304055 hasPrimaryLocation W20203040551 @default.
• W2020304055 hasRelatedWork W12529343 @default.
• W2020304055 hasRelatedWork W1983797803 @default.
• W2020304055 hasRelatedWork W2007317812 @default.
• W2020304055 hasRelatedWork W2010279830 @default.
• W2020304055 hasRelatedWork W2011823071 @default.
• W2020304055 hasRelatedWork W2017259070 @default.

• next