Differences in presentation and progression between severe FIC1 and BSEP deficiencies

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...

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Published in:	Journal of hepatology Vol. 53; no. 1; pp. 170 - 178
Main Authors:	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.
Format:	Journal Article
Language:	English
Published:	Kidlington Elsevier B.V 01.07.2010 Elsevier
Subjects:	ABCB11 Adenosine Triphosphatases - deficiency Adenosine Triphosphatases - genetics Adolescent Adult Age of Onset ATP binding cassette protein ATP Binding Cassette Transporter, Subfamily B, Member 11 ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism ATP8B1 Bile Acids and Salts - metabolism Biological and medical sciences BSEP Child Child, Preschool Cholestasis Cholestasis, Intrahepatic - diagnosis Cholestasis, Intrahepatic - genetics Cholestasis, Intrahepatic - metabolism Diagnosis, Differential Disease Progression Female FIC1 gamma-Glutamyltransferase - blood Gastroenterology and Hepatology Gastroenterology. Liver. Pancreas. Abdomen Genetics Humans Infant Infant, Newborn Kaplan-Meier Estimate Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Mutation Other diseases. Semiology P-type ATPase Pediatrics Phenotype Pregnancy Retrospective Studies Transport protein Young Adult Pediatrics ALP ALT ABCB11 N PEBD OLT WBC Genetics AROC IE AST BSEP OR ATP8B1 sAT FLLN γGT FULN FIC1 ATP binding cassette protein sBA BRIC PFIC Transport protein P-type ATPase Cholestasis BA alanine aminotransferase odds ratio bile acids alkaline phosphatase sample size orthotopic liver transplantation serum aminotransferase activity benign recurrent intrahepatic cholestasis partial external biliary diversion progressive familial intrahepatic cholestasis bile salt export pump serum bile acids ATP binding cassette, sub-family B, member 11 gamma-glutamyltranspeptidase fold lower limit of normal range fold upper limit of normal range white blood cell ATPase, class I, type 8B, member 1 familial intrahepatic cholestasis 1 aspartate aminotransferase ileal exclusion area under the ROC (receiver operating characteristic) curve Human Prognosis Enzyme Deficiency Adenosinetriphosphatase Biliary tract disease Binding protein Cholostasis Gastroenterology Hydrolases Digestive diseases Evolution ATP Child
ISSN:	0168-8278, 1600-0641, 1600-0641
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