FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2144473114> ?p ?o ?g. }

• W2144473114 endingPage "336" @default.
• W2144473114 startingPage "333" @default.
• W2144473114 abstract "Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations account for most of the difficulties of prenatal diagnosis, as well as the limitations of ultrasonography itself. Prenatal diagnosis, however, can be achieved through (1) assays of concentrations of peroxisomal metabolites (very-long-chain fatty acids, bile acids, intermediates, plasmalogens), (2) activities of peroxisomal enzymes (dihydroacetone-phosphate acyltransferase), or (3) molecular screening techniques, if available. We report on the contribution of MR imaging to the diagnosis of ZS in 2 unrelated fetuses. MR imaging was performed in the third trimester because of cerebral ventricular enlargement diagnosed on routine sonography examinations. In both cases, MR imaging revealed ZS-characteristic abnormal cortical gyral patterns, impaired myelination, and cerebral periventricular pseudocysts. In addition, MR imaging revealed renal microcysts and hepatosplenomegaly in one case. The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS." @default.
• W2144473114 created "2016-06-24" @default.
• W2144473114 creator A5014656045 @default.
• W2144473114 creator A5024424386 @default.
• W2144473114 creator A5039615899 @default.
• W2144473114 creator A5046900294 @default.
• W2144473114 creator A5047685808 @default.
• W2144473114 creator A5051855602 @default.
• W2144473114 creator A5053190925 @default.
• W2144473114 creator A5058389993 @default.
• W2144473114 creator A5075784804 @default.
• W2144473114 creator A5080198386 @default.
• W2144473114 date "2006-02-01" @default.
• W2144473114 modified "2023-10-18" @default.
• W2144473114 title "Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome." @default.
• W2144473114 cites W1483327444 @default.
• W2144473114 cites W1580238165 @default.
• W2144473114 cites W1668956088 @default.
• W2144473114 cites W171263212 @default.
• W2144473114 cites W1878769090 @default.
• W2144473114 cites W1959433595 @default.
• W2144473114 cites W1964764827 @default.
• W2144473114 cites W1976773936 @default.
• W2144473114 cites W1984739246 @default.
• W2144473114 cites W1984907362 @default.
• W2144473114 cites W1998978462 @default.
• W2144473114 cites W2010689575 @default.
• W2144473114 cites W2010931272 @default.
• W2144473114 cites W2035791489 @default.
• W2144473114 cites W2050805484 @default.
• W2144473114 cites W2056156479 @default.
• W2144473114 cites W2060840571 @default.
• W2144473114 cites W2061806518 @default.
• W2144473114 cites W2062615022 @default.
• W2144473114 cites W2075594193 @default.
• W2144473114 cites W2076077839 @default.
• W2144473114 cites W2080049220 @default.
• W2144473114 cites W2087601962 @default.
• W2144473114 cites W2088797463 @default.
• W2144473114 cites W2092362067 @default.
• W2144473114 cites W2092716180 @default.
• W2144473114 cites W2093281751 @default.
• W2144473114 cites W2095410014 @default.
• W2144473114 cites W2121095627 @default.
• W2144473114 cites W2124312910 @default.
• W2144473114 cites W2124635182 @default.
• W2144473114 cites W2127590872 @default.
• W2144473114 cites W2131374243 @default.
• W2144473114 cites W2143996886 @default.
• W2144473114 cites W2183167529 @default.
• W2144473114 cites W2184068520 @default.
• W2144473114 cites W273463978 @default.
• W2144473114 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8148762" @default.
• W2144473114 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16484405" @default.
• W2144473114 hasPublicationYear "2006" @default.
• W2144473114 type Work @default.
• W2144473114 sameAs 2144473114 @default.
• W2144473114 citedByCount "13" @default.
• W2144473114 countsByYear W21444731142012 @default.
• W2144473114 countsByYear W21444731142013 @default.
• W2144473114 countsByYear W21444731142016 @default.
• W2144473114 countsByYear W21444731142018 @default.
• W2144473114 countsByYear W21444731142021 @default.
• W2144473114 crossrefType "journal-article" @default.
• W2144473114 hasAuthorship W2144473114A5014656045 @default.
• W2144473114 hasAuthorship W2144473114A5024424386 @default.
• W2144473114 hasAuthorship W2144473114A5039615899 @default.
• W2144473114 hasAuthorship W2144473114A5046900294 @default.
• W2144473114 hasAuthorship W2144473114A5047685808 @default.
• W2144473114 hasAuthorship W2144473114A5051855602 @default.
• W2144473114 hasAuthorship W2144473114A5053190925 @default.
• W2144473114 hasAuthorship W2144473114A5058389993 @default.
• W2144473114 hasAuthorship W2144473114A5075784804 @default.
• W2144473114 hasAuthorship W2144473114A5080198386 @default.
• W2144473114 hasConcept C126322002 @default.
• W2144473114 hasConcept C126838900 @default.
• W2144473114 hasConcept C127078168 @default.
• W2144473114 hasConcept C142724271 @default.
• W2144473114 hasConcept C143409427 @default.
• W2144473114 hasConcept C170493617 @default.
• W2144473114 hasConcept C172680121 @default.
• W2144473114 hasConcept C2777485865 @default.
• W2144473114 hasConcept C2777565452 @default.
• W2144473114 hasConcept C2778258057 @default.
• W2144473114 hasConcept C2778918659 @default.
• W2144473114 hasConcept C2779234561 @default.
• W2144473114 hasConcept C2781317408 @default.
• W2144473114 hasConcept C41625074 @default.
• W2144473114 hasConcept C54355233 @default.
• W2144473114 hasConcept C55493867 @default.
• W2144473114 hasConcept C71924100 @default.
• W2144473114 hasConcept C86803240 @default.
• W2144473114 hasConceptScore W2144473114C126322002 @default.
• W2144473114 hasConceptScore W2144473114C126838900 @default.
• W2144473114 hasConceptScore W2144473114C127078168 @default.
• W2144473114 hasConceptScore W2144473114C142724271 @default.
• W2144473114 hasConceptScore W2144473114C143409427 @default.
• W2144473114 hasConceptScore W2144473114C170493617 @default.

• next