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Journal Abstract Search

142 related items for PubMed ID: 38204320

  • 1. A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
    Ateş BB, Ceylan AC, Hızal G, Duran F, Doğan HT, Hızlı Ş.
    Turk J Pediatr; 2023; 65(6):1012-1017. PubMed ID: 38204320
    [Abstract] [Full Text] [Related]

  • 2. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
    Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS.
    Liver Int; 2020 May; 40(5):1142-1150. PubMed ID: 32124521
    [Abstract] [Full Text] [Related]

  • 3. Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.
    Vij M, Sankaranarayanan S.
    Pediatr Dev Pathol; 2022 May; 25(2):207-212. PubMed ID: 34809518
    [Abstract] [Full Text] [Related]

  • 4. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
    Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM.
    J Hum Genet; 2021 Feb; 66(2):151-159. PubMed ID: 32759993
    [Abstract] [Full Text] [Related]

  • 5. Cholestasis Due to USP53 Deficiency.
    Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ.
    J Pediatr Gastroenterol Nutr; 2021 May 01; 72(5):667-673. PubMed ID: 33075013
    [Abstract] [Full Text] [Related]

  • 6. A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.
    Kamran TE, Faisal S, Khalid R, Haider Z, Inam R, Siddiqui Y, Iqbal M, Khan SA.
    SAGE Open Med Case Rep; 2024 May 01; 12():2050313X241266813. PubMed ID: 39071191
    [Abstract] [Full Text] [Related]

  • 7. A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.
    Shatokhina O, Semenova N, Demina N, Dadali E, Polyakov A, Ryzhkova O.
    Genes (Basel); 2021 Oct 14; 12(10):. PubMed ID: 34681012
    [Abstract] [Full Text] [Related]

  • 8. Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
    Zheng Y, Guo H, Chen L, Cheng W, Yan K, Zhang Z, Li M, Jin Y, Hu G, Wang C, Zhou C, Zhou W, Jia Z, Zheng B, Liu Z.
    Hepatol Int; 2024 Apr 14; 18(2):661-672. PubMed ID: 37314652
    [Abstract] [Full Text] [Related]

  • 9. Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.
    Porta G, Rigo PSM, Porta A, Pugliese RPS, Danesi VLB, Oliveira E, Borges CCV, Ribeiro C, Miura IK.
    J Pediatr Gastroenterol Nutr; 2021 May 01; 72(5):674-676. PubMed ID: 33661244
    [Abstract] [Full Text] [Related]

  • 10. Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC).
    Choudhury A, Kulkarni AV, Sahoo B, Bihari C.
    BMJ Case Rep; 2017 May 05; 2017():. PubMed ID: 28476903
    [Abstract] [Full Text] [Related]

  • 11. Benign recurrent intrahepatic cholestasis: late initial diagnosis in adulthood.
    Ermis F, Oncu K, Ozel M, Yazgan Y, Gurbuz AK, Demirturk L, Demirci H, Akyol T, Hahoglu A.
    Ann Hepatol; 2010 May 05; 9(2):207-10. PubMed ID: 20526019
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  • 13. Case Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis.
    Kornitzer GA, Alvarez F.
    JPGN Rep; 2021 Aug 05; 2(3):e087. PubMed ID: 37205944
    [Abstract] [Full Text] [Related]

  • 14. The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.
    Ahn S, Choi J, Jeong SH.
    Yonsei Med J; 2023 Dec 05; 64(12):745-749. PubMed ID: 37992747
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  • 16. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum.
    van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH.
    J Hepatol; 2002 Mar 05; 36(3):439-43. PubMed ID: 11867191
    [Abstract] [Full Text] [Related]

  • 17. Benign recurrent intrahepatic cholestasis in a Saudi child.
    al Drees K, al Zaben A, al Amir A, Abdulla A.
    Ann Trop Paediatr; 1999 Jun 05; 19(2):215-7. PubMed ID: 10690264
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  • 19. [Recurrent benign intrahepatic cholestasis and their progression to familiar progressive intrahepatic cholestasis].
    Alburquerque Miranda M, Vargas Cárdenas G, Lozano Miranda Z, Reyes Mugruza T, Li Torres W, Valdivia Roldán M.
    Rev Gastroenterol Peru; 2008 Jun 05; 28(2):183-8. PubMed ID: 18641783
    [Abstract] [Full Text] [Related]

  • 20. Benign recurrent intrahepatic cholestasis.
    Gupta V, Kumar M, Bhatia BD.
    Indian J Pediatr; 2005 Sep 05; 72(9):793-4. PubMed ID: 16186684
    [Abstract] [Full Text] [Related]

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