Matches in SemOpenAlex for { <https://semopenalex.org/work/W3041839242> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W3041839242 endingPage "104" @default.
- W3041839242 startingPage "104" @default.
- W3041839242 abstract "Hereditary tyrosinaemia type 1 (HT1) is a rare inherited genetic disorder attributed to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT1 may present with diarrhoea in its acute form. We report on a 2.5-year-old Egyptian girl diagnosed with HT1. At the age of 1 year and 9 months, the patient started to have persistent diarrhoea with marked abdominal distension, anorexia and irritability, and with no fever or vomiting. At the onset of diarrhoea, liver synthetic functions deteriorated and ascites progressed, requiring frequent paracentesis. These manifestations did not improve after starting specific treatment for HT1 (2-(2-nitro-4-trifluoromethylbenzoyl)- 1,3-cyclohexanedione) (NTBC). Coeliac disease was diagnosed; this disorder was not previously reported as having an association with HT1." @default.
- W3041839242 created "2020-07-16" @default.
- W3041839242 creator A5081359181 @default.
- W3041839242 creator A5086051787 @default.
- W3041839242 creator A5087621303 @default.
- W3041839242 date "2020-07-07" @default.
- W3041839242 modified "2023-09-27" @default.
- W3041839242 title "A challenging case of hereditary type 1 tyrosinaemia associated with persistent diarrhoea: Case report and literature review" @default.
- W3041839242 doi "https://doi.org/10.7196/sajch.2020.v14i2.01661" @default.
- W3041839242 hasPublicationYear "2020" @default.
- W3041839242 type Work @default.
- W3041839242 sameAs 3041839242 @default.
- W3041839242 citedByCount "0" @default.
- W3041839242 crossrefType "journal-article" @default.
- W3041839242 hasAuthorship W3041839242A5081359181 @default.
- W3041839242 hasAuthorship W3041839242A5086051787 @default.
- W3041839242 hasAuthorship W3041839242A5087621303 @default.
- W3041839242 hasBestOaLocation W30418392421 @default.
- W3041839242 hasConcept C126322002 @default.
- W3041839242 hasConcept C187212893 @default.
- W3041839242 hasConcept C2778562196 @default.
- W3041839242 hasConcept C2778654693 @default.
- W3041839242 hasConcept C2779124032 @default.
- W3041839242 hasConcept C2779134260 @default.
- W3041839242 hasConcept C2779701055 @default.
- W3041839242 hasConcept C2780496750 @default.
- W3041839242 hasConcept C2780820931 @default.
- W3041839242 hasConcept C2780852908 @default.
- W3041839242 hasConcept C2908585274 @default.
- W3041839242 hasConcept C71924100 @default.
- W3041839242 hasConcept C90924648 @default.
- W3041839242 hasConceptScore W3041839242C126322002 @default.
- W3041839242 hasConceptScore W3041839242C187212893 @default.
- W3041839242 hasConceptScore W3041839242C2778562196 @default.
- W3041839242 hasConceptScore W3041839242C2778654693 @default.
- W3041839242 hasConceptScore W3041839242C2779124032 @default.
- W3041839242 hasConceptScore W3041839242C2779134260 @default.
- W3041839242 hasConceptScore W3041839242C2779701055 @default.
- W3041839242 hasConceptScore W3041839242C2780496750 @default.
- W3041839242 hasConceptScore W3041839242C2780820931 @default.
- W3041839242 hasConceptScore W3041839242C2780852908 @default.
- W3041839242 hasConceptScore W3041839242C2908585274 @default.
- W3041839242 hasConceptScore W3041839242C71924100 @default.
- W3041839242 hasConceptScore W3041839242C90924648 @default.
- W3041839242 hasIssue "2" @default.
- W3041839242 hasLocation W30418392421 @default.
- W3041839242 hasOpenAccess W3041839242 @default.
- W3041839242 hasPrimaryLocation W30418392421 @default.
- W3041839242 hasRelatedWork W2057825690 @default.
- W3041839242 hasRelatedWork W2084494634 @default.
- W3041839242 hasRelatedWork W2320562621 @default.
- W3041839242 hasRelatedWork W2376132146 @default.
- W3041839242 hasRelatedWork W2471651452 @default.
- W3041839242 hasRelatedWork W2888150717 @default.
- W3041839242 hasRelatedWork W2888949611 @default.
- W3041839242 hasRelatedWork W3003206030 @default.
- W3041839242 hasRelatedWork W3041839242 @default.
- W3041839242 hasRelatedWork W3150709247 @default.
- W3041839242 hasVolume "14" @default.
- W3041839242 isParatext "false" @default.
- W3041839242 isRetracted "false" @default.
- W3041839242 magId "3041839242" @default.
- W3041839242 workType "article" @default.