Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

doi:10.1016/j.jhep.2010.01.034

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Article

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Journal of hepatology - 1 Jul 2010

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

Abstract excerpt

BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11

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Identifiers

PMID: 20447715
DOI: 10.1016/j.jhep.2010.01.034
PMCID: PMC3042805

Genes

ABCB11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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