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Article

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

Gastroenterology - 1 Dec 1999

Jansen P L, Strautnieks S S, Jacquemin E, Hadchouel M, Sokal E M, Hooiveld G J, Koning J H, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld C M, Gouw A, Van Goor H, Thompson R J, Müller M

Abstract excerpt

BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum gamma-glutamyltransferase activity. Patients with normal gamma-glutamyltransferase activity have mutations of the FIC1 locus on chromosome 18q21 or mutations of the BSEP gene on chromosome 2q24. Also, patients with bile acid...

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Identifiers

PMID: 10579978
DOI: 10.1016/s0016-5085(99)70287-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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