Matches in SemOpenAlex for { <https://semopenalex.org/work/W2002168423> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W2002168423 endingPage "121" @default.
- W2002168423 startingPage "116" @default.
- W2002168423 abstract "Two sisters from a large consanguineous Turkish family with Sanfilippo C disease presented within the first 2 years of life. They had coarse facial features, organomegaly and discrete radiological signs of dysostosis multiplex. Urinary glycosaminoglycan excretion was elevated, heparan sulfate being the major component. The uptake of radioactive sulfate into fibroblasts from both patients was abnormal. A deficiency of acetylCoA: alpha-glucosamine transferase was demonstrated in fibroblasts from one patient. To our knowledge, this is the first report of the disease presenting in early infancy." @default.
- W2002168423 created "2016-06-24" @default.
- W2002168423 creator A5000092533 @default.
- W2002168423 creator A5019089595 @default.
- W2002168423 creator A5033509106 @default.
- W2002168423 date "2008-06-28" @default.
- W2002168423 modified "2023-09-25" @default.
- W2002168423 title "Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree" @default.
- W2002168423 cites W1535500294 @default.
- W2002168423 cites W167448193 @default.
- W2002168423 cites W1968516199 @default.
- W2002168423 cites W1977619270 @default.
- W2002168423 cites W2030826187 @default.
- W2002168423 cites W2067219893 @default.
- W2002168423 cites W2067429146 @default.
- W2002168423 cites W2067689560 @default.
- W2002168423 cites W2070241116 @default.
- W2002168423 cites W2085696161 @default.
- W2002168423 cites W2095409487 @default.
- W2002168423 cites W2407843050 @default.
- W2002168423 cites W4210605241 @default.
- W2002168423 cites W4237516793 @default.
- W2002168423 cites W2076527063 @default.
- W2002168423 doi "https://doi.org/10.1111/j.1399-0004.1988.tb02846.x" @default.
- W2002168423 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3142713" @default.
- W2002168423 hasPublicationYear "2008" @default.
- W2002168423 type Work @default.
- W2002168423 sameAs 2002168423 @default.
- W2002168423 citedByCount "9" @default.
- W2002168423 countsByYear W20021684232018 @default.
- W2002168423 countsByYear W20021684232021 @default.
- W2002168423 crossrefType "journal-article" @default.
- W2002168423 hasAuthorship W2002168423A5000092533 @default.
- W2002168423 hasAuthorship W2002168423A5019089595 @default.
- W2002168423 hasAuthorship W2002168423A5033509106 @default.
- W2002168423 hasConcept C105702510 @default.
- W2002168423 hasConcept C126322002 @default.
- W2002168423 hasConcept C134018914 @default.
- W2002168423 hasConcept C142724271 @default.
- W2002168423 hasConcept C153074725 @default.
- W2002168423 hasConcept C187212893 @default.
- W2002168423 hasConcept C2778041096 @default.
- W2002168423 hasConcept C2778066728 @default.
- W2002168423 hasConcept C2778551932 @default.
- W2002168423 hasConcept C2779134260 @default.
- W2002168423 hasConcept C2779416428 @default.
- W2002168423 hasConcept C2779969927 @default.
- W2002168423 hasConcept C2910727661 @default.
- W2002168423 hasConcept C71924100 @default.
- W2002168423 hasConceptScore W2002168423C105702510 @default.
- W2002168423 hasConceptScore W2002168423C126322002 @default.
- W2002168423 hasConceptScore W2002168423C134018914 @default.
- W2002168423 hasConceptScore W2002168423C142724271 @default.
- W2002168423 hasConceptScore W2002168423C153074725 @default.
- W2002168423 hasConceptScore W2002168423C187212893 @default.
- W2002168423 hasConceptScore W2002168423C2778041096 @default.
- W2002168423 hasConceptScore W2002168423C2778066728 @default.
- W2002168423 hasConceptScore W2002168423C2778551932 @default.
- W2002168423 hasConceptScore W2002168423C2779134260 @default.
- W2002168423 hasConceptScore W2002168423C2779416428 @default.
- W2002168423 hasConceptScore W2002168423C2779969927 @default.
- W2002168423 hasConceptScore W2002168423C2910727661 @default.
- W2002168423 hasConceptScore W2002168423C71924100 @default.
- W2002168423 hasIssue "2" @default.
- W2002168423 hasLocation W20021684231 @default.
- W2002168423 hasLocation W20021684232 @default.
- W2002168423 hasOpenAccess W2002168423 @default.
- W2002168423 hasPrimaryLocation W20021684231 @default.
- W2002168423 hasRelatedWork W1982338435 @default.
- W2002168423 hasRelatedWork W1984654098 @default.
- W2002168423 hasRelatedWork W2048608469 @default.
- W2002168423 hasRelatedWork W2107027406 @default.
- W2002168423 hasRelatedWork W2124552160 @default.
- W2002168423 hasRelatedWork W3000722734 @default.
- W2002168423 hasRelatedWork W3045671861 @default.
- W2002168423 hasRelatedWork W4233593821 @default.
- W2002168423 hasRelatedWork W4285019818 @default.
- W2002168423 hasRelatedWork W4313458658 @default.
- W2002168423 hasVolume "34" @default.
- W2002168423 isParatext "false" @default.
- W2002168423 isRetracted "false" @default.
- W2002168423 magId "2002168423" @default.
- W2002168423 workType "article" @default.