Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing
Byrne, Jane A., Strautnieks, Sandra S., Ihrke, Gudrun, Pagani, Franco, Knisely, A.S., Linton, Kenneth J., Mieli‐Vergani, Giorgina, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.02.2009)
Published in Hepatology (Baltimore, Md.) (01.02.2009)
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Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Emerick, Karan, Antoniou, Anthony, Wanty, Catherine, Fischler, Bjorn, Jacquemin, Emmanuel, Wali, Sami, Blanchard, Samra, Nielsen, Inge-Merete, Bourke, Billy, McQuaid, Shirley, Lacaille, Florence, Byrne, Jane A, van Eerde, Albertien M, Kolho, Kaija-Leena, Klomp, Leo, Houwen, Roderick, Bacchetti, Peter, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli-Vergani, Giorgina, Shneider, Benjamin, Nemeth, Antal, Sokal, Etienne, Freimer, Nelson B, Knisely, A.S, Rosenthal, Philip, Whitington, Peter F, Pawlowska, Joanna, Thompson, Richard J, Bull, Laura N
Published in Journal of hepatology (01.07.2010)
Published in Journal of hepatology (01.07.2010)
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The human bile salt export pump: characterization of substrate specificity and identification of inhibitors
Byrne, Jane A, Strautnieks, Sandra S, Mieli-Vergani, Giorgina, Higgins, Christopher F, Linton, Kenneth J, Thompson, Richard J
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
Strautnieks, Sandra S, Byrne, Jane A, Pawlikowska, Ludmila, Cebecauerová, Dita, Rayner, Anne, Dutton, Laura, Meier, Yvonne, Antoniou, Anthony, Stieger, Bruno, Arnell, Henrik, Ozçay, Figen, Al-Hussaini, Hussa F, Bassas, Atif F, Verkade, Henkjan J, Fischler, Björn, Németh, Antal, Kotalová, Radana, Shneider, Benjamin L, Cielecka-Kuszyk, Joanna, McClean, Patricia, Whitington, Peter F, Sokal, Etienne, Jirsa, Milan, Wali, Sami H, Jankowska, Irena, Pawłowska, Joanna, Mieli-Vergani, Giorgina, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2008)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2008)
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Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Knisely, A. S., Strautnieks, Sandra S., Meier, Yvonne, Stieger, Bruno, Byrne, Jane A., Portmann, Bernard C., Bull, Laura N., Pawlikowska, Ludmila, Bilezikçi, Banu, Özçay, Figen, László, Aranka, Tiszlavicz, László, Moore, Lynette, Raftos, Jeremy, Arnell, Henrik, Fischler, Björn, Németh, Antal, Papadogiannakis, Nikos, Cielecka‐Kuszyk, Joanna, Jankowska, Irena, Pawłowska, Joanna, Melín‐Aldana, Hector, Emerick, Karan M., Whitington, Peter F., Mieli‐Vergani, Giorgina, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.08.2006)
Published in Hepatology (Baltimore, Md.) (01.08.2006)
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Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies
Bull, Laura N., Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Dodge, Jennifer L., Emerick, Karan, Wanty, Catherine, Wali, Sami, Blanchard, Samra, Lacaille, Florence, Byrne, Jane A., van Eerde, Albertien M., Kolho, Kaija‐Leena, Houwen, Roderick, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli‐Vergani, Giorgina, Sokal, Etienne, Rosenthal, Philip, Whitington, Peter F., Pawlowska, Joanna, Thompson, Richard J.
Published in Hepatology communications (01.05.2018)
Published in Hepatology communications (01.05.2018)
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Characterization of mutations in ATP8B1 associated with hereditary cholestasis
Klomp, Leo W. J., Vargas, Julie C., van Mil, Saskia W. C., Pawlikowska, Ludmila, Strautnieks, Sandra S., van Eijk, Michiel J. T., Juijn, Jenneke A., Pabón‐Peña, Carlos, Smith, Lauren B., DeYoung, Joseph A., Byrne, Jane A., Gombert, Justijn, van der Brugge, Gerda, Berger, Ruud, Jankowska, Irena, Pawlowska, Joanna, Villa, Erica, Knisely, A. S., Thompson, Richard J., Freimer, Nelson B., Houwen, Roderick H. J., Bull, Laura N.
Published in Hepatology (Baltimore, Md.) (01.07.2004)
Published in Hepatology (Baltimore, Md.) (01.07.2004)
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A composition of an active carbon pellet and process for preparing of it
DAVID E. SAURIOL, FLOWE, ROBERT C, YAN, ZHIQUAN QUENTIN, BECKLER, ROBERT K, BYRNE, JANE F, MILLER, JAMES R
Year of Publication 01.04.1999
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Year of Publication 01.04.1999
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