FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4306670479> ?p ?o ?g. }

• W4306670479 abstract "Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive disorder with poor prognosis. It is caused by pathogenic variants of the ATP binding cassette subfamily B member 4 ( ABCB4 ) gene and usually progresses from chronic cholestasis with or without jaundice to portal hypertension and end-stage liver disease within the first to second decade of life. Few reported PFIC-3 patients presented with atypical clinical symptoms, therefore, often misdiagnosed if without family history. Herein, we report a 16-year-old male who was admitted to our hospital due to acute episodes of jaundice and intense pruritus, subsequently progressed to end-stage liver disease. Laboratory examinations showed no evidence of liver injury caused by viral, autoimmune, drug or liver tumors. Ursodeoxycholic acid and dexamethasone did not relieve his symptoms and he underwent liver transplantation successfully. Targeted next-generation sequencing identified that the patient was a compound heterozygote for two missense mutations (c.959C &gt; T/c.1429C &gt; A) in the ABCB4 gene. The mutation c.1429C &gt; A (p.Q477K) is a novel heterozygous mutation. We constructed a three-dimensional model of this novel pathogenic variant using the SWISS MODEL program and found that the patient's ABCB4 protein is an ATP hydrolysis deficient mutant. The postoperative pathological diagnosis showed intrahepatic cholestasis with progression to cirrhosis. Negative liver tissue immunohistochemistry of MDR3 was found in the explanted liver. The patient was diagnosed with PFIC-3, and his symptoms improved dramatically with liver transplantation. In conclusion, for young patients with acute cholestasis, pruritus, jaundice, growth retardation, and enlargement of the liver and spleen, the possibility of inherited metabolic liver diseases should be considered, detailed medical and family history should be collected, and metabolic screening tests as well as gene tests are necessary for correct diagnosis. Increasing the coverage of PFIC3 is meaningful and thus can improve the current understanding of this disease." @default.
• W4306670479 created "2022-10-19" @default.
• W4306670479 creator A5016806891 @default.
• W4306670479 creator A5026329292 @default.
• W4306670479 creator A5027475930 @default.
• W4306670479 creator A5038365435 @default.
• W4306670479 creator A5046454314 @default.
• W4306670479 creator A5065486126 @default.
• W4306670479 creator A5074917608 @default.
• W4306670479 creator A5079250604 @default.
• W4306670479 date "2022-10-18" @default.
• W4306670479 modified "2023-10-13" @default.
• W4306670479 title "Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4" @default.
• W4306670479 cites W1810783817 @default.
• W4306670479 cites W1963552073 @default.
• W4306670479 cites W1971957145 @default.
• W4306670479 cites W1982624323 @default.
• W4306670479 cites W1984274163 @default.
• W4306670479 cites W1984935905 @default.
• W4306670479 cites W2008299431 @default.
• W4306670479 cites W2009007332 @default.
• W4306670479 cites W2020935194 @default.
• W4306670479 cites W2042380755 @default.
• W4306670479 cites W2056578624 @default.
• W4306670479 cites W2060116186 @default.
• W4306670479 cites W2060577824 @default.
• W4306670479 cites W2061569374 @default.
• W4306670479 cites W2069556660 @default.
• W4306670479 cites W2092844371 @default.
• W4306670479 cites W2108293406 @default.
• W4306670479 cites W2112292869 @default.
• W4306670479 cites W2143436143 @default.
• W4306670479 cites W2415429771 @default.
• W4306670479 cites W2890239024 @default.
• W4306670479 cites W2898210835 @default.
• W4306670479 cites W2990916073 @default.
• W4306670479 cites W3004833701 @default.
• W4306670479 cites W3009039922 @default.
• W4306670479 cites W3020281048 @default.
• W4306670479 cites W3021883529 @default.
• W4306670479 cites W3093274042 @default.
• W4306670479 cites W3113776015 @default.
• W4306670479 cites W3137858774 @default.
• W4306670479 cites W3154839066 @default.
• W4306670479 cites W4225151142 @default.
• W4306670479 doi "https://doi.org/10.3389/fped.2022.1012825" @default.
• W4306670479 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36330364" @default.
• W4306670479 hasPublicationYear "2022" @default.
• W4306670479 type Work @default.
• W4306670479 citedByCount "2" @default.
• W4306670479 countsByYear W43066704792023 @default.
• W4306670479 crossrefType "journal-article" @default.
• W4306670479 hasAuthorship W4306670479A5016806891 @default.
• W4306670479 hasAuthorship W4306670479A5026329292 @default.
• W4306670479 hasAuthorship W4306670479A5027475930 @default.
• W4306670479 hasAuthorship W4306670479A5038365435 @default.
• W4306670479 hasAuthorship W4306670479A5046454314 @default.
• W4306670479 hasAuthorship W4306670479A5065486126 @default.
• W4306670479 hasAuthorship W4306670479A5074917608 @default.
• W4306670479 hasAuthorship W4306670479A5079250604 @default.
• W4306670479 hasBestOaLocation W43066704791 @default.
• W4306670479 hasConcept C104317684 @default.
• W4306670479 hasConcept C12125453 @default.
• W4306670479 hasConcept C126322002 @default.
• W4306670479 hasConcept C142724271 @default.
• W4306670479 hasConcept C2777075537 @default.
• W4306670479 hasConcept C2777214474 @default.
• W4306670479 hasConcept C2778132995 @default.
• W4306670479 hasConcept C2778456037 @default.
• W4306670479 hasConcept C2778593092 @default.
• W4306670479 hasConcept C2779609443 @default.
• W4306670479 hasConcept C2780965833 @default.
• W4306670479 hasConcept C2911091166 @default.
• W4306670479 hasConcept C501734568 @default.
• W4306670479 hasConcept C54355233 @default.
• W4306670479 hasConcept C71924100 @default.
• W4306670479 hasConcept C75563809 @default.
• W4306670479 hasConcept C86803240 @default.
• W4306670479 hasConcept C90924648 @default.
• W4306670479 hasConceptScore W4306670479C104317684 @default.
• W4306670479 hasConceptScore W4306670479C12125453 @default.
• W4306670479 hasConceptScore W4306670479C126322002 @default.
• W4306670479 hasConceptScore W4306670479C142724271 @default.
• W4306670479 hasConceptScore W4306670479C2777075537 @default.
• W4306670479 hasConceptScore W4306670479C2777214474 @default.
• W4306670479 hasConceptScore W4306670479C2778132995 @default.
• W4306670479 hasConceptScore W4306670479C2778456037 @default.
• W4306670479 hasConceptScore W4306670479C2778593092 @default.
• W4306670479 hasConceptScore W4306670479C2779609443 @default.
• W4306670479 hasConceptScore W4306670479C2780965833 @default.
• W4306670479 hasConceptScore W4306670479C2911091166 @default.
• W4306670479 hasConceptScore W4306670479C501734568 @default.
• W4306670479 hasConceptScore W4306670479C54355233 @default.
• W4306670479 hasConceptScore W4306670479C71924100 @default.
• W4306670479 hasConceptScore W4306670479C75563809 @default.
• W4306670479 hasConceptScore W4306670479C86803240 @default.
• W4306670479 hasConceptScore W4306670479C90924648 @default.
• W4306670479 hasLocation W43066704791 @default.
• W4306670479 hasLocation W43066704792 @default.
• W4306670479 hasLocation W43066704793 @default.

• next