Matches in SemOpenAlex for { <https://semopenalex.org/work/W1979284985> ?p ?o ?g. }
- W1979284985 endingPage "420" @default.
- W1979284985 startingPage "407" @default.
- W1979284985 abstract "We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic of type 3 were noted from early childhood, although the major signs were undeveloped until early adult life. Autopsy disclosed thickened leptomeninges with perivascular fibrosis, non-rheumatic calcified aortic and mitral stenosis with marked fibrosis, and mild infiltration of Gaucher cells in the reticuloendothelial organs. In contrast to the slight accumulation of glc-cer in the liver and spleen, the activity of glc-cer-beta-glucosidase was markedly decreased in the tissues, as much as in a patient with type 2 Gaucher disease. Common mutations were not found in the glucocerebrosidase gene." @default.
- W1979284985 created "2016-06-24" @default.
- W1979284985 creator A5009735452 @default.
- W1979284985 creator A5020812304 @default.
- W1979284985 creator A5029945372 @default.
- W1979284985 creator A5033349864 @default.
- W1979284985 creator A5055923444 @default.
- W1979284985 creator A5056125632 @default.
- W1979284985 creator A5072513046 @default.
- W1979284985 creator A5086789472 @default.
- W1979284985 date "1992-10-01" @default.
- W1979284985 modified "2023-09-27" @default.
- W1979284985 title "Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with-glucocerebrosidase deficiency and a mosaic population of storage cells" @default.
- W1979284985 cites W1513579923 @default.
- W1979284985 cites W1775749144 @default.
- W1979284985 cites W1967472687 @default.
- W1979284985 cites W1967682021 @default.
- W1979284985 cites W1973181680 @default.
- W1979284985 cites W1973976631 @default.
- W1979284985 cites W1978527561 @default.
- W1979284985 cites W1980082706 @default.
- W1979284985 cites W1990097214 @default.
- W1979284985 cites W1997536147 @default.
- W1979284985 cites W1999561512 @default.
- W1979284985 cites W2005686273 @default.
- W1979284985 cites W2010578392 @default.
- W1979284985 cites W2014930423 @default.
- W1979284985 cites W2015861363 @default.
- W1979284985 cites W2020016740 @default.
- W1979284985 cites W2020353337 @default.
- W1979284985 cites W2033339157 @default.
- W1979284985 cites W2036600403 @default.
- W1979284985 cites W2041409512 @default.
- W1979284985 cites W2044728209 @default.
- W1979284985 cites W2048779593 @default.
- W1979284985 cites W2051178851 @default.
- W1979284985 cites W2052529207 @default.
- W1979284985 cites W2061325032 @default.
- W1979284985 cites W2066592363 @default.
- W1979284985 cites W2067738653 @default.
- W1979284985 cites W2072550019 @default.
- W1979284985 cites W2074617097 @default.
- W1979284985 cites W2078762243 @default.
- W1979284985 cites W2078803038 @default.
- W1979284985 cites W2078809930 @default.
- W1979284985 cites W2084474407 @default.
- W1979284985 cites W2087092572 @default.
- W1979284985 cites W2087351475 @default.
- W1979284985 cites W2089321924 @default.
- W1979284985 cites W2091967893 @default.
- W1979284985 cites W2094012092 @default.
- W1979284985 cites W2119612828 @default.
- W1979284985 cites W2119690867 @default.
- W1979284985 cites W2124663723 @default.
- W1979284985 cites W2141560328 @default.
- W1979284985 cites W2155634394 @default.
- W1979284985 cites W2164918587 @default.
- W1979284985 cites W2168526937 @default.
- W1979284985 cites W2323372801 @default.
- W1979284985 cites W2323405250 @default.
- W1979284985 cites W2324020074 @default.
- W1979284985 cites W2407843050 @default.
- W1979284985 cites W83859215 @default.
- W1979284985 doi "https://doi.org/10.1111/j.1600-0404.1992.tb05109.x" @default.
- W1979284985 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1333717" @default.
- W1979284985 hasPublicationYear "1992" @default.
- W1979284985 type Work @default.
- W1979284985 sameAs 1979284985 @default.
- W1979284985 citedByCount "62" @default.
- W1979284985 countsByYear W19792849852012 @default.
- W1979284985 countsByYear W19792849852013 @default.
- W1979284985 countsByYear W19792849852014 @default.
- W1979284985 countsByYear W19792849852015 @default.
- W1979284985 countsByYear W19792849852017 @default.
- W1979284985 countsByYear W19792849852018 @default.
- W1979284985 countsByYear W19792849852019 @default.
- W1979284985 countsByYear W19792849852020 @default.
- W1979284985 countsByYear W19792849852021 @default.
- W1979284985 countsByYear W19792849852022 @default.
- W1979284985 countsByYear W19792849852023 @default.
- W1979284985 crossrefType "journal-article" @default.
- W1979284985 hasAuthorship W1979284985A5009735452 @default.
- W1979284985 hasAuthorship W1979284985A5020812304 @default.
- W1979284985 hasAuthorship W1979284985A5029945372 @default.
- W1979284985 hasAuthorship W1979284985A5033349864 @default.
- W1979284985 hasAuthorship W1979284985A5055923444 @default.
- W1979284985 hasAuthorship W1979284985A5056125632 @default.
- W1979284985 hasAuthorship W1979284985A5072513046 @default.
- W1979284985 hasAuthorship W1979284985A5086789472 @default.
- W1979284985 hasBestOaLocation W19792849851 @default.
- W1979284985 hasConcept C118487528 @default.
- W1979284985 hasConcept C126322002 @default.
- W1979284985 hasConcept C141071460 @default.
- W1979284985 hasConcept C142724271 @default.
- W1979284985 hasConcept C2776723260 @default.
- W1979284985 hasConcept C2778134817 @default.
- W1979284985 hasConcept C2778264360 @default.
- W1979284985 hasConcept C2779134260 @default.