Matches in SemOpenAlex for { <https://semopenalex.org/work/W2337219007> ?p ?o ?g. }
- W2337219007 endingPage "204" @default.
- W2337219007 startingPage "197" @default.
- W2337219007 abstract "Members of a family with dominant epidermolysis bullosa simplex were found to have a deficiency of galactosylhydroxylysyl glucosyltransferase (GGT), an enzyme catalyzing the glucosylation of galactosylhydroxylysyl residues in the biosynthesis of collagen. The enzyme's activity was low in serum, skin tissue, and cultured skin fibroblasts, although no abnormality was found in three other intracellular enzymes of collagen biosynthesis. Mixtures of serum samples from patients and healthy controls gave the expected GGT activity, indicating that the low values were not due to inhibitors. GGT deficiency was accompanied by decreased product formation in vivo, as shown by a markedly decreased urinary excretion of glucosylgalactosylhydroxylysine. Six of 12 affected members had definite GGT deficiency, and five had some evidence suggestive of this abnormality; 13 of 15 unaffected members had no such manifestations. No similar GGT deficiency was found in three other families with the same disease. We conclude that GGT deficiency may be etiologically related to this disease in some families, but that different defects must be the cause in other cases." @default.
- W2337219007 created "2016-06-24" @default.
- W2337219007 creator A5036252076 @default.
- W2337219007 creator A5039797479 @default.
- W2337219007 creator A5064900083 @default.
- W2337219007 creator A5079826416 @default.
- W2337219007 date "1981-01-22" @default.
- W2337219007 modified "2023-09-24" @default.
- W2337219007 title "Deficiency of Galactosylhydroxylysyl Glucosyltransferase, an Enzyme of Collagen Synthesis, in a Family with Dominant Epidermolysis Bullosa Simplex" @default.
- W2337219007 cites W1498117260 @default.
- W2337219007 cites W1520294010 @default.
- W2337219007 cites W1527633762 @default.
- W2337219007 cites W1530068304 @default.
- W2337219007 cites W1575527548 @default.
- W2337219007 cites W169276775 @default.
- W2337219007 cites W186900036 @default.
- W2337219007 cites W1964850195 @default.
- W2337219007 cites W1978729782 @default.
- W2337219007 cites W1987968808 @default.
- W2337219007 cites W1991702536 @default.
- W2337219007 cites W1992094593 @default.
- W2337219007 cites W1992311279 @default.
- W2337219007 cites W2009881774 @default.
- W2337219007 cites W2010281880 @default.
- W2337219007 cites W2010695616 @default.
- W2337219007 cites W2021047317 @default.
- W2337219007 cites W2024985157 @default.
- W2337219007 cites W2033034806 @default.
- W2337219007 cites W2039542266 @default.
- W2337219007 cites W2066050385 @default.
- W2337219007 cites W2070827212 @default.
- W2337219007 cites W2081387688 @default.
- W2337219007 cites W2086340688 @default.
- W2337219007 cites W2088636617 @default.
- W2337219007 cites W2089865128 @default.
- W2337219007 cites W2091099084 @default.
- W2337219007 cites W2092285239 @default.
- W2337219007 cites W2103669145 @default.
- W2337219007 cites W2119906116 @default.
- W2337219007 cites W2130289134 @default.
- W2337219007 cites W2144845599 @default.
- W2337219007 cites W2175654952 @default.
- W2337219007 cites W2212970656 @default.
- W2337219007 cites W2314571758 @default.
- W2337219007 cites W2320349909 @default.
- W2337219007 cites W2321015838 @default.
- W2337219007 cites W2327171 @default.
- W2337219007 cites W2329008726 @default.
- W2337219007 cites W2414039702 @default.
- W2337219007 cites W4211018404 @default.
- W2337219007 doi "https://doi.org/10.1056/nejm198101223040403" @default.
- W2337219007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/6449670" @default.
- W2337219007 hasPublicationYear "1981" @default.
- W2337219007 type Work @default.
- W2337219007 sameAs 2337219007 @default.
- W2337219007 citedByCount "51" @default.
- W2337219007 countsByYear W23372190072012 @default.
- W2337219007 countsByYear W23372190072019 @default.
- W2337219007 countsByYear W23372190072023 @default.
- W2337219007 crossrefType "journal-article" @default.
- W2337219007 hasAuthorship W2337219007A5036252076 @default.
- W2337219007 hasAuthorship W2337219007A5039797479 @default.
- W2337219007 hasAuthorship W2337219007A5064900083 @default.
- W2337219007 hasAuthorship W2337219007A5079826416 @default.
- W2337219007 hasConcept C118552586 @default.
- W2337219007 hasConcept C126322002 @default.
- W2337219007 hasConcept C134018914 @default.
- W2337219007 hasConcept C142724271 @default.
- W2337219007 hasConcept C181199279 @default.
- W2337219007 hasConcept C2777858569 @default.
- W2337219007 hasConcept C2781207856 @default.
- W2337219007 hasConcept C50965678 @default.
- W2337219007 hasConcept C553450214 @default.
- W2337219007 hasConcept C55493867 @default.
- W2337219007 hasConcept C71924100 @default.
- W2337219007 hasConcept C77411442 @default.
- W2337219007 hasConcept C86803240 @default.
- W2337219007 hasConceptScore W2337219007C118552586 @default.
- W2337219007 hasConceptScore W2337219007C126322002 @default.
- W2337219007 hasConceptScore W2337219007C134018914 @default.
- W2337219007 hasConceptScore W2337219007C142724271 @default.
- W2337219007 hasConceptScore W2337219007C181199279 @default.
- W2337219007 hasConceptScore W2337219007C2777858569 @default.
- W2337219007 hasConceptScore W2337219007C2781207856 @default.
- W2337219007 hasConceptScore W2337219007C50965678 @default.
- W2337219007 hasConceptScore W2337219007C553450214 @default.
- W2337219007 hasConceptScore W2337219007C55493867 @default.
- W2337219007 hasConceptScore W2337219007C71924100 @default.
- W2337219007 hasConceptScore W2337219007C77411442 @default.
- W2337219007 hasConceptScore W2337219007C86803240 @default.
- W2337219007 hasIssue "4" @default.
- W2337219007 hasLocation W23372190071 @default.
- W2337219007 hasLocation W23372190072 @default.
- W2337219007 hasOpenAccess W2337219007 @default.
- W2337219007 hasPrimaryLocation W23372190071 @default.
- W2337219007 hasRelatedWork W107896380 @default.
- W2337219007 hasRelatedWork W169735115 @default.
- W2337219007 hasRelatedWork W2010372900 @default.