Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018133067> ?p ?o ?g. }
- W2018133067 endingPage "357" @default.
- W2018133067 startingPage "349" @default.
- W2018133067 abstract "Summary A new lysosomal storage disease with autosomal recessive inheritance is described in two male siblings of 5 1/2 and 4 years of age. Clinical manifestations started after 9 months of age with neurological symptoms, followed by progressive psychomotor deterioration. Urinary oligosaccharide excretion was abnormal and showed a characteristic pattern on chromatography. Enzyme assays showed a profound deficiency of lysosomal α‐ N ‐acetylgalactosaminidase in cultured fibroblasts, leukocytes and plasma from the patients and reduced activity in material from the parents. The defiiciency was demonstrated both with an artificial substrate and a natural one, the blood group A trisaccharide. Excessive intra‐lysosomal storage of α‐ N ‐acetylgalactosamine‐containing material was demonstrated in cultured fibroblasts from the patients, using the lectin from Helix pomatia which is specific for terminal α‐ N ‐acetylgalactosamine residues." @default.
- W2018133067 created "2016-06-24" @default.
- W2018133067 creator A5003985566 @default.
- W2018133067 creator A5017581573 @default.
- W2018133067 creator A5024269155 @default.
- W2018133067 creator A5030843902 @default.
- W2018133067 creator A5031497708 @default.
- W2018133067 creator A5052564050 @default.
- W2018133067 creator A5061293875 @default.
- W2018133067 creator A5074066944 @default.
- W2018133067 date "1988-05-11" @default.
- W2018133067 modified "2023-09-25" @default.
- W2018133067 title "α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder" @default.
- W2018133067 cites W125998318 @default.
- W2018133067 cites W1535002104 @default.
- W2018133067 cites W1554245862 @default.
- W2018133067 cites W1968695644 @default.
- W2018133067 cites W1976195557 @default.
- W2018133067 cites W1995393116 @default.
- W2018133067 cites W1997971463 @default.
- W2018133067 cites W2000092276 @default.
- W2018133067 cites W2004702270 @default.
- W2018133067 cites W2021033059 @default.
- W2018133067 cites W2057901780 @default.
- W2018133067 cites W2075493559 @default.
- W2018133067 cites W2089142394 @default.
- W2018133067 cites W2120826368 @default.
- W2018133067 cites W2154263741 @default.
- W2018133067 cites W2239200696 @default.
- W2018133067 cites W2324079866 @default.
- W2018133067 cites W244155896 @default.
- W2018133067 cites W4245819429 @default.
- W2018133067 cites W4254267805 @default.
- W2018133067 cites W2419025784 @default.
- W2018133067 doi "https://doi.org/10.1007/bf01800424" @default.
- W2018133067 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3149698" @default.
- W2018133067 hasPublicationYear "1988" @default.
- W2018133067 type Work @default.
- W2018133067 sameAs 2018133067 @default.
- W2018133067 citedByCount "50" @default.
- W2018133067 countsByYear W20181330672012 @default.
- W2018133067 countsByYear W20181330672013 @default.
- W2018133067 countsByYear W20181330672014 @default.
- W2018133067 countsByYear W20181330672015 @default.
- W2018133067 countsByYear W20181330672017 @default.
- W2018133067 countsByYear W20181330672019 @default.
- W2018133067 countsByYear W20181330672020 @default.
- W2018133067 countsByYear W20181330672021 @default.
- W2018133067 countsByYear W20181330672022 @default.
- W2018133067 crossrefType "journal-article" @default.
- W2018133067 hasAuthorship W2018133067A5003985566 @default.
- W2018133067 hasAuthorship W2018133067A5017581573 @default.
- W2018133067 hasAuthorship W2018133067A5024269155 @default.
- W2018133067 hasAuthorship W2018133067A5030843902 @default.
- W2018133067 hasAuthorship W2018133067A5031497708 @default.
- W2018133067 hasAuthorship W2018133067A5052564050 @default.
- W2018133067 hasAuthorship W2018133067A5061293875 @default.
- W2018133067 hasAuthorship W2018133067A5074066944 @default.
- W2018133067 hasConcept C126322002 @default.
- W2018133067 hasConcept C134018914 @default.
- W2018133067 hasConcept C142724271 @default.
- W2018133067 hasConcept C181199279 @default.
- W2018133067 hasConcept C185592680 @default.
- W2018133067 hasConcept C18903297 @default.
- W2018133067 hasConcept C204787440 @default.
- W2018133067 hasConcept C2776202747 @default.
- W2018133067 hasConcept C2777959311 @default.
- W2018133067 hasConcept C2779965526 @default.
- W2018133067 hasConcept C2780758401 @default.
- W2018133067 hasConcept C2908579795 @default.
- W2018133067 hasConcept C55493867 @default.
- W2018133067 hasConcept C71924100 @default.
- W2018133067 hasConcept C77411442 @default.
- W2018133067 hasConcept C86803240 @default.
- W2018133067 hasConceptScore W2018133067C126322002 @default.
- W2018133067 hasConceptScore W2018133067C134018914 @default.
- W2018133067 hasConceptScore W2018133067C142724271 @default.
- W2018133067 hasConceptScore W2018133067C181199279 @default.
- W2018133067 hasConceptScore W2018133067C185592680 @default.
- W2018133067 hasConceptScore W2018133067C18903297 @default.
- W2018133067 hasConceptScore W2018133067C204787440 @default.
- W2018133067 hasConceptScore W2018133067C2776202747 @default.
- W2018133067 hasConceptScore W2018133067C2777959311 @default.
- W2018133067 hasConceptScore W2018133067C2779965526 @default.
- W2018133067 hasConceptScore W2018133067C2780758401 @default.
- W2018133067 hasConceptScore W2018133067C2908579795 @default.
- W2018133067 hasConceptScore W2018133067C55493867 @default.
- W2018133067 hasConceptScore W2018133067C71924100 @default.
- W2018133067 hasConceptScore W2018133067C77411442 @default.
- W2018133067 hasConceptScore W2018133067C86803240 @default.
- W2018133067 hasIssue "4" @default.
- W2018133067 hasLocation W20181330671 @default.
- W2018133067 hasLocation W20181330672 @default.
- W2018133067 hasOpenAccess W2018133067 @default.
- W2018133067 hasPrimaryLocation W20181330671 @default.
- W2018133067 hasRelatedWork W1966504330 @default.
- W2018133067 hasRelatedWork W1966775726 @default.
- W2018133067 hasRelatedWork W1979139803 @default.