FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023405613> ?p ?o ?g. }

• W2023405613 endingPage "344" @default.
• W2023405613 startingPage "337" @default.
• W2023405613 abstract "Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome." @default.
• W2023405613 created "2016-06-24" @default.
• W2023405613 creator A5004635893 @default.
• W2023405613 creator A5004902309 @default.
• W2023405613 creator A5024373158 @default.
• W2023405613 creator A5056157813 @default.
• W2023405613 creator A5068234271 @default.
• W2023405613 creator A5073264343 @default.
• W2023405613 creator A5087121467 @default.
• W2023405613 creator A5088934952 @default.
• W2023405613 creator A5091858941 @default.
• W2023405613 date "1985-09-01" @default.
• W2023405613 modified "2023-10-14" @default.
• W2023405613 title "The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens" @default.
• W2023405613 cites W1580238165 @default.
• W2023405613 cites W1966299660 @default.
• W2023405613 cites W1966778844 @default.
• W2023405613 cites W1970868464 @default.
• W2023405613 cites W1973279666 @default.
• W2023405613 cites W1984739246 @default.
• W2023405613 cites W1989282269 @default.
• W2023405613 cites W2000489985 @default.
• W2023405613 cites W2003254875 @default.
• W2023405613 cites W2003971709 @default.
• W2023405613 cites W2010931272 @default.
• W2023405613 cites W2039843235 @default.
• W2023405613 cites W2054201430 @default.
• W2023405613 cites W2089629260 @default.
• W2023405613 cites W2107786477 @default.
• W2023405613 cites W2148362496 @default.
• W2023405613 cites W2152311269 @default.
• W2023405613 cites W2183989513 @default.
• W2023405613 cites W2322643461 @default.
• W2023405613 doi "https://doi.org/10.1002/pd.1970050506" @default.
• W2023405613 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/4070172" @default.
• W2023405613 hasPublicationYear "1985" @default.
• W2023405613 type Work @default.
• W2023405613 sameAs 2023405613 @default.
• W2023405613 citedByCount "22" @default.
• W2023405613 countsByYear W20234056132015 @default.
• W2023405613 crossrefType "journal-article" @default.
• W2023405613 hasAuthorship W2023405613A5004635893 @default.
• W2023405613 hasAuthorship W2023405613A5004902309 @default.
• W2023405613 hasAuthorship W2023405613A5024373158 @default.
• W2023405613 hasAuthorship W2023405613A5056157813 @default.
• W2023405613 hasAuthorship W2023405613A5068234271 @default.
• W2023405613 hasAuthorship W2023405613A5073264343 @default.
• W2023405613 hasAuthorship W2023405613A5087121467 @default.
• W2023405613 hasAuthorship W2023405613A5088934952 @default.
• W2023405613 hasAuthorship W2023405613A5091858941 @default.
• W2023405613 hasConcept C126322002 @default.
• W2023405613 hasConcept C127078168 @default.
• W2023405613 hasConcept C134018914 @default.
• W2023405613 hasConcept C170493617 @default.
• W2023405613 hasConcept C172680121 @default.
• W2023405613 hasConcept C181199279 @default.
• W2023405613 hasConcept C2775970874 @default.
• W2023405613 hasConcept C2777485865 @default.
• W2023405613 hasConcept C2777565452 @default.
• W2023405613 hasConcept C2778194526 @default.
• W2023405613 hasConcept C2778258057 @default.
• W2023405613 hasConcept C2778918659 @default.
• W2023405613 hasConcept C2779234561 @default.
• W2023405613 hasConcept C2781317408 @default.
• W2023405613 hasConcept C2781385326 @default.
• W2023405613 hasConcept C41625074 @default.
• W2023405613 hasConcept C54355233 @default.
• W2023405613 hasConcept C553450214 @default.
• W2023405613 hasConcept C55493867 @default.
• W2023405613 hasConcept C71924100 @default.
• W2023405613 hasConcept C86803240 @default.
• W2023405613 hasConceptScore W2023405613C126322002 @default.
• W2023405613 hasConceptScore W2023405613C127078168 @default.
• W2023405613 hasConceptScore W2023405613C134018914 @default.
• W2023405613 hasConceptScore W2023405613C170493617 @default.
• W2023405613 hasConceptScore W2023405613C172680121 @default.
• W2023405613 hasConceptScore W2023405613C181199279 @default.
• W2023405613 hasConceptScore W2023405613C2775970874 @default.
• W2023405613 hasConceptScore W2023405613C2777485865 @default.
• W2023405613 hasConceptScore W2023405613C2777565452 @default.
• W2023405613 hasConceptScore W2023405613C2778194526 @default.
• W2023405613 hasConceptScore W2023405613C2778258057 @default.
• W2023405613 hasConceptScore W2023405613C2778918659 @default.
• W2023405613 hasConceptScore W2023405613C2779234561 @default.
• W2023405613 hasConceptScore W2023405613C2781317408 @default.
• W2023405613 hasConceptScore W2023405613C2781385326 @default.
• W2023405613 hasConceptScore W2023405613C41625074 @default.
• W2023405613 hasConceptScore W2023405613C54355233 @default.
• W2023405613 hasConceptScore W2023405613C553450214 @default.
• W2023405613 hasConceptScore W2023405613C55493867 @default.
• W2023405613 hasConceptScore W2023405613C71924100 @default.
• W2023405613 hasConceptScore W2023405613C86803240 @default.
• W2023405613 hasIssue "5" @default.
• W2023405613 hasLocation W20234056131 @default.
• W2023405613 hasLocation W20234056132 @default.
• W2023405613 hasOpenAccess W2023405613 @default.
• W2023405613 hasPrimaryLocation W20234056131 @default.
• W2023405613 hasRelatedWork W1964791222 @default.

• next