Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010152007> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2010152007 endingPage "220" @default.
- W2010152007 startingPage "211" @default.
- W2010152007 abstract "Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long-term prognosis." @default.
- W2010152007 created "2016-06-24" @default.
- W2010152007 creator A5011434581 @default.
- W2010152007 creator A5012517734 @default.
- W2010152007 creator A5016840339 @default.
- W2010152007 creator A5046332183 @default.
- W2010152007 creator A5089986857 @default.
- W2010152007 date "1987-01-01" @default.
- W2010152007 modified "2023-10-14" @default.
- W2010152007 title "Direct hyperbilirubinemia and hepatic fibrosis: A new presentation of Jeune syndrome (asphyxiating thoracic dystrophy)" @default.
- W2010152007 cites W1779643484 @default.
- W2010152007 cites W1964993797 @default.
- W2010152007 cites W1982371999 @default.
- W2010152007 cites W2000954967 @default.
- W2010152007 cites W2006834092 @default.
- W2010152007 cites W2009811682 @default.
- W2010152007 cites W2018217601 @default.
- W2010152007 cites W2054398510 @default.
- W2010152007 cites W2078340909 @default.
- W2010152007 cites W2087387939 @default.
- W2010152007 cites W2127850350 @default.
- W2010152007 cites W2133435376 @default.
- W2010152007 cites W2141663876 @default.
- W2010152007 cites W2147148368 @default.
- W2010152007 cites W2163293261 @default.
- W2010152007 cites W2414393598 @default.
- W2010152007 cites W4243710717 @default.
- W2010152007 doi "https://doi.org/10.1002/ajmg.1320280525" @default.
- W2010152007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3130856" @default.
- W2010152007 hasPublicationYear "1987" @default.
- W2010152007 type Work @default.
- W2010152007 sameAs 2010152007 @default.
- W2010152007 citedByCount "22" @default.
- W2010152007 countsByYear W20101520072014 @default.
- W2010152007 countsByYear W20101520072016 @default.
- W2010152007 countsByYear W20101520072023 @default.
- W2010152007 crossrefType "journal-article" @default.
- W2010152007 hasAuthorship W2010152007A5011434581 @default.
- W2010152007 hasAuthorship W2010152007A5012517734 @default.
- W2010152007 hasAuthorship W2010152007A5016840339 @default.
- W2010152007 hasAuthorship W2010152007A5046332183 @default.
- W2010152007 hasAuthorship W2010152007A5089986857 @default.
- W2010152007 hasConcept C126322002 @default.
- W2010152007 hasConcept C142724271 @default.
- W2010152007 hasConcept C187212893 @default.
- W2010152007 hasConcept C2775894508 @default.
- W2010152007 hasConcept C2776366509 @default.
- W2010152007 hasConcept C2776888751 @default.
- W2010152007 hasConcept C2776938444 @default.
- W2010152007 hasConcept C2777214474 @default.
- W2010152007 hasConcept C2778456037 @default.
- W2010152007 hasConcept C2778808290 @default.
- W2010152007 hasConcept C2779504383 @default.
- W2010152007 hasConcept C71924100 @default.
- W2010152007 hasConceptScore W2010152007C126322002 @default.
- W2010152007 hasConceptScore W2010152007C142724271 @default.
- W2010152007 hasConceptScore W2010152007C187212893 @default.
- W2010152007 hasConceptScore W2010152007C2775894508 @default.
- W2010152007 hasConceptScore W2010152007C2776366509 @default.
- W2010152007 hasConceptScore W2010152007C2776888751 @default.
- W2010152007 hasConceptScore W2010152007C2776938444 @default.
- W2010152007 hasConceptScore W2010152007C2777214474 @default.
- W2010152007 hasConceptScore W2010152007C2778456037 @default.
- W2010152007 hasConceptScore W2010152007C2778808290 @default.
- W2010152007 hasConceptScore W2010152007C2779504383 @default.
- W2010152007 hasConceptScore W2010152007C71924100 @default.
- W2010152007 hasIssue "S3" @default.
- W2010152007 hasLocation W20101520071 @default.
- W2010152007 hasLocation W20101520072 @default.
- W2010152007 hasOpenAccess W2010152007 @default.
- W2010152007 hasPrimaryLocation W20101520071 @default.
- W2010152007 hasRelatedWork W1991821775 @default.
- W2010152007 hasRelatedWork W2059773962 @default.
- W2010152007 hasRelatedWork W2072383393 @default.
- W2010152007 hasRelatedWork W2091213114 @default.
- W2010152007 hasRelatedWork W2398029175 @default.
- W2010152007 hasRelatedWork W2409522035 @default.
- W2010152007 hasRelatedWork W2418502454 @default.
- W2010152007 hasRelatedWork W2472917198 @default.
- W2010152007 hasRelatedWork W4236339841 @default.
- W2010152007 hasRelatedWork W4383647074 @default.
- W2010152007 hasVolume "28" @default.
- W2010152007 isParatext "false" @default.
- W2010152007 isRetracted "false" @default.
- W2010152007 magId "2010152007" @default.
- W2010152007 workType "article" @default.