FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2747221555> ?p ?o ?g. }

• W2747221555 endingPage "590" @default.
• W2747221555 startingPage "586" @default.
• W2747221555 abstract "Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration. The patient's symptoms began at 24 h of life with lethargy that rapidly progressed to coma upon admission to the neonatal intensive care unit. Although hyperammonemia and hyperbilirubinemia were documented, hemofiltration could not be performed. OTCD diagnosis was biochemically established. Despite nutritional intervention and treatment for hyperammonemia, the patient died on the sixth day of life. At autopsy, external brain examination revealed a marked yellow pigmentation typical of kernicterus that included gray matter, particularly the thalamus and basal ganglia; dentate nuclei of the cerebellum and brain stem gray matter were also affected. Microscopic findings were consistent with the classical description of tissue damage in OTCD, including the presence of Alzheimer type II astrocytes in basal ganglia, necrosis, neuronal loss with spongiform degeneration and macrophage infiltration surrounded by astroglia. This condition may be an important comorbidity in newborns with hyperammonemia." @default.
• W2747221555 created "2017-08-31" @default.
• W2747221555 creator A5011666619 @default.
• W2747221555 creator A5013748251 @default.
• W2747221555 creator A5024324204 @default.
• W2747221555 creator A5030373742 @default.
• W2747221555 creator A5031309312 @default.
• W2747221555 creator A5061248131 @default.
• W2747221555 creator A5061325725 @default.
• W2747221555 creator A5076420129 @default.
• W2747221555 date "2017-08-16" @default.
• W2747221555 modified "2023-10-18" @default.
• W2747221555 title "Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report" @default.
• W2747221555 cites W1969688574 @default.
• W2747221555 cites W1970858671 @default.
• W2747221555 cites W1976857639 @default.
• W2747221555 cites W1977058448 @default.
• W2747221555 cites W1977536197 @default.
• W2747221555 cites W1982974382 @default.
• W2747221555 cites W1993643436 @default.
• W2747221555 cites W1994249412 @default.
• W2747221555 cites W2023424597 @default.
• W2747221555 cites W2029588112 @default.
• W2747221555 cites W2049162853 @default.
• W2747221555 cites W2062494871 @default.
• W2747221555 cites W2080555303 @default.
• W2747221555 cites W2094890150 @default.
• W2747221555 cites W2099797504 @default.
• W2747221555 cites W2125879114 @default.
• W2747221555 cites W2339455913 @default.
• W2747221555 cites W2507834766 @default.
• W2747221555 cites W2593029352 @default.
• W2747221555 cites W2599894506 @default.
• W2747221555 doi "https://doi.org/10.1111/neup.12404" @default.
• W2747221555 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28815739" @default.
• W2747221555 hasPublicationYear "2017" @default.
• W2747221555 type Work @default.
• W2747221555 sameAs 2747221555 @default.
• W2747221555 citedByCount "5" @default.
• W2747221555 countsByYear W27472215552017 @default.
• W2747221555 countsByYear W27472215552018 @default.
• W2747221555 countsByYear W27472215552019 @default.
• W2747221555 countsByYear W27472215552022 @default.
• W2747221555 crossrefType "journal-article" @default.
• W2747221555 hasAuthorship W2747221555A5011666619 @default.
• W2747221555 hasAuthorship W2747221555A5013748251 @default.
• W2747221555 hasAuthorship W2747221555A5024324204 @default.
• W2747221555 hasAuthorship W2747221555A5030373742 @default.
• W2747221555 hasAuthorship W2747221555A5031309312 @default.
• W2747221555 hasAuthorship W2747221555A5061248131 @default.
• W2747221555 hasAuthorship W2747221555A5061325725 @default.
• W2747221555 hasAuthorship W2747221555A5076420129 @default.
• W2747221555 hasConcept C126322002 @default.
• W2747221555 hasConcept C142724271 @default.
• W2747221555 hasConcept C187212893 @default.
• W2747221555 hasConcept C2777260799 @default.
• W2747221555 hasConcept C2777468819 @default.
• W2747221555 hasConcept C2778083895 @default.
• W2747221555 hasConcept C2778187257 @default.
• W2747221555 hasConcept C2778377652 @default.
• W2747221555 hasConcept C2778456037 @default.
• W2747221555 hasConcept C2778621155 @default.
• W2747221555 hasConcept C2780469793 @default.
• W2747221555 hasConcept C2781099255 @default.
• W2747221555 hasConcept C515207424 @default.
• W2747221555 hasConcept C529278444 @default.
• W2747221555 hasConcept C55493867 @default.
• W2747221555 hasConcept C71924100 @default.
• W2747221555 hasConcept C77061444 @default.
• W2747221555 hasConcept C86803240 @default.
• W2747221555 hasConceptScore W2747221555C126322002 @default.
• W2747221555 hasConceptScore W2747221555C142724271 @default.
• W2747221555 hasConceptScore W2747221555C187212893 @default.
• W2747221555 hasConceptScore W2747221555C2777260799 @default.
• W2747221555 hasConceptScore W2747221555C2777468819 @default.
• W2747221555 hasConceptScore W2747221555C2778083895 @default.
• W2747221555 hasConceptScore W2747221555C2778187257 @default.
• W2747221555 hasConceptScore W2747221555C2778377652 @default.
• W2747221555 hasConceptScore W2747221555C2778456037 @default.
• W2747221555 hasConceptScore W2747221555C2778621155 @default.
• W2747221555 hasConceptScore W2747221555C2780469793 @default.
• W2747221555 hasConceptScore W2747221555C2781099255 @default.
• W2747221555 hasConceptScore W2747221555C515207424 @default.
• W2747221555 hasConceptScore W2747221555C529278444 @default.
• W2747221555 hasConceptScore W2747221555C55493867 @default.
• W2747221555 hasConceptScore W2747221555C71924100 @default.
• W2747221555 hasConceptScore W2747221555C77061444 @default.
• W2747221555 hasConceptScore W2747221555C86803240 @default.
• W2747221555 hasIssue "6" @default.
• W2747221555 hasLocation W27472215551 @default.
• W2747221555 hasLocation W27472215552 @default.
• W2747221555 hasOpenAccess W2747221555 @default.
• W2747221555 hasPrimaryLocation W27472215551 @default.
• W2747221555 hasRelatedWork W1760466333 @default.
• W2747221555 hasRelatedWork W2012976763 @default.
• W2747221555 hasRelatedWork W2057825690 @default.
• W2747221555 hasRelatedWork W2081875950 @default.
• W2747221555 hasRelatedWork W2095108823 @default.

• next