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65 results

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Page 1
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ. Knisely AS, et al. Among authors: bull ln. Hepatology. 2006 Aug;44(2):478-86. doi: 10.1002/hep.21287. Hepatology. 2006. PMID: 16871584
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Strautnieks SS, et al. Among authors: bull ln. Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18. Gastroenterology. 2008. PMID: 18395098 Free article.
Treating genetic disease: Expanding the options.
Thompson RJ, Bull LN. Thompson RJ, et al. Among authors: bull ln. Hepatology. 2015 Aug;62(2):349-51. doi: 10.1002/hep.27817. Epub 2015 May 7. Hepatology. 2015. PMID: 25820708 No abstract available.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J; University of Washington Center for Mendelian Genomics; Bull L, Thompson RJ. Grammatikopoulos T, et al. J Hepatol. 2016 Dec;65(6):1179-1187. doi: 10.1016/j.jhep.2016.07.017. Epub 2016 Jul 25. J Hepatol. 2016. PMID: 27469900 Free PMC article.
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Klomp LW, et al. Among authors: bull ln. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Hepatology. 2004. PMID: 15239083
Molecular basis of intrahepatic cholestasis.
Carlton VE, Pawlikowska L, Bull LN. Carlton VE, et al. Among authors: bull ln. Ann Med. 2004;36(8):606-17. doi: 10.1080/07853890410018916. Ann Med. 2004. PMID: 15768832 Free article. Review.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Pawlikowska L, et al. Among authors: bull ln. J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13. J Hepatol. 2010. PMID: 20447715 Free PMC article.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ. Bull LN, et al. Hepatol Commun. 2018 Mar 30;2(5):515-528. doi: 10.1002/hep4.1168. eCollection 2018 May. Hepatol Commun. 2018. PMID: 29761168 Free PMC article.
65 results