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Journal Article
Hepatology (Baltimore, Md.), ISSN 0270-9139, 2015, Volume 61, Issue 4, pp. 1382 - 1391
ATP8B1 deficiency is a severe autosomal recessive liver disease resulting from mutations in the ATP8B1 gene characterized by a continuous phenotypical spectrum... 
GENE-MUTATIONS | CORRECT | DEFECTS | LIVER-TRANSPLANTATION | DIARRHEA | INTRAHEPATIC CHOLESTASIS TYPE-1 | HEREDITARY CHOLESTASIS | SNRNA | GASTROENTEROLOGY & HEPATOLOGY | CHILDREN | RNA, Small Nuclear - physiology | Adenosine Triphosphatases - genetics | Mutation | Humans | RNA Splicing - genetics | Cells, Cultured | Gallbladder diseases | Disease | Genes | Index Medicus
Journal Article
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 09/2019, Volume 69, Issue 3, pp. 310 - 316
OBJECTIVE:Paediatric-onset inflammatory bowel disease (IBD) is different from adult-onset IBD with respect to disease severity and its effect on growth and... 
Journal Article
Liver international : official journal of the International Association for the Study of the Liver, ISSN 1478-3223, 06/2019
Wilson disease (WD) is a rare disorder of copper metabolism. The objective of this systematic review is to determine the comparative effectiveness and safety... 
Journal Article
Liver international : official journal of the International Association for the Study of the Liver, ISSN 1478-3223, 06/2019
Sclerosing cholangitis (SC) is a severe liver disease leading to destruction of bile ducts. It is believed to run a milder course in children than in adults.... 
Journal Article
Journal Article
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 03/2019, Volume 18, Issue 2, pp. 286 - 293
Disruption of the enterohepatic circulation of bile acids (BAs) is part of the gastrointestinal phenotype of cystic fibrosis (CF). Ivacaftor (VX-770), a cystic... 
FXR | FGF15 | S125N mutation | Ivacaftor | Enterohepatic circulation | FGF19 | G551D mutation | Bile acid metabolism | ACTIVATION | ASSAY | EFFICACY | SAFETY | POTENTIATOR | 7-ALPHA-HYDROXY-4-CHOLESTEN-3-ONE | RESPIRATORY SYSTEM | DIURNAL-VARIATION | IRRITABLE-BOWEL-SYNDROME | CFTR | FGF21 | Analysis | Physiological aspects | Homeostasis | Cystic fibrosis | Fibroblast growth factors | Genetic aspects | Deoxycholic acid
Journal Article