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Journal Abstract Search

154 related items for PubMed ID: 38090248

  • 1. Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
    Al Housni S, Al-Thihli K, Rahmatalla D, Wali Y, Al Rawahi Y.
    Sultan Qaboos Univ Med J; 2023 Nov; 23(4):543-546. PubMed ID: 38090248
    [Abstract] [Full Text] [Related]

  • 2. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
    Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H.
    World J Gastroenterol; 2020 Feb 07; 26(5):550-561. PubMed ID: 32089630
    [Abstract] [Full Text] [Related]

  • 3. [Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances].
    Zhang J, Yu H.
    Zhonghua Gan Zang Bing Za Zhi; 2016 Jan 07; 24(1):78-80. PubMed ID: 26983395
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  • 4. Progressive familial intrahepatic cholestasis type 4: a case report.
    Abokandil MA, Waheeb S, Zaghloul W, Abdelgawad M, Abdelhady M, Mansy M, Kotb M.
    J Med Case Rep; 2024 Sep 07; 18(1):434. PubMed ID: 39243110
    [Abstract] [Full Text] [Related]

  • 5. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
    Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P.
    J Gastroenterol; 2018 Aug 07; 53(8):945-958. PubMed ID: 29238877
    [Abstract] [Full Text] [Related]

  • 6. TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
    Zhang J, Liu LL, Gong JY, Hao CZ, Qiu YL, Lu Y, Feng JY, Li JQ, Li ZD, Wang MX, Xing QH, Knisely AS, Wang JS.
    Hum Mutat; 2020 Feb 07; 41(2):502-511. PubMed ID: 31696999
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  • 8. [Progressive familial intrahepatic cholestasis type 3].
    Lipiński P, Jankowska I.
    Dev Period Med; 2018 Feb 07; 22(4):385-389. PubMed ID: 30636238
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  • 10. Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.
    Zhang BP, Huang ZH, Dong C.
    Medicine (Baltimore); 2019 May 07; 98(19):e15593. PubMed ID: 31083246
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  • 11. ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
    Li LT, Li ZD, Yang Y, Lu Y, Xie XB, Chen L, Feng JY, Knisely AS, Wang JS.
    Liver Int; 2020 Nov 07; 40(11):2788-2796. PubMed ID: 32808743
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  • 14. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
    Bakır A, Topçu V, Çavdarlı B.
    Ann Hum Genet; 2022 May 07; 86(3):119-126. PubMed ID: 34961929
    [Abstract] [Full Text] [Related]

  • 15. Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.
    Altay D, Gorukmez O, Arslan D.
    Fetal Pediatr Pathol; 2022 Apr 07; 41(2):293-298. PubMed ID: 32597698
    [Abstract] [Full Text] [Related]

  • 16. A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant.
    Jankowska I, Pawłowska J, Szymczak M, Ismail H, Broniszczak D, Cielecka-Kuszyk J, Socha P, Jarzębicka D, Czubkowski P.
    Am J Case Rep; 2021 Jul 20; 22():e932374. PubMed ID: 34283821
    [Abstract] [Full Text] [Related]

  • 17. [Progressive familial intrahepatic cholestasis presenting as liver failure].
    Sangorrin Iranzo A, Iriondo Sanz M, Alvarez García L, Jara Vega P, Martín de Carpi J.
    An Pediatr (Barc); 2009 Dec 20; 71(6):510-3. PubMed ID: 19811957
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  • 18. Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.
    Selmi I, Broly F, Ouarda H, Marmech E, Khlayfia Z, Kanzari J, Azzabi O, Siala N.
    Tunis Med; 2021 Feb 20; 99(2):215-220. PubMed ID: 33899189
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  • 19. 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 Feb 20; 25(2):207-212. PubMed ID: 34809518
    [Abstract] [Full Text] [Related]

  • 20. Familial intrahepatic cholestasis: New and wide perspectives.
    Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P.
    Dig Liver Dis; 2019 Jul 20; 51(7):922-933. PubMed ID: 31105019
    [Abstract] [Full Text] [Related]

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