Article
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Gastroenterology - 1 Jan 2003
Setchell Kenneth D R, Heubi James E, Bove Kevin E, O'Connell Nancy C, Brewsaugh Tracy, Steinberg Steven J, Moser Ann, Squires Robert H
Abstract excerpt
BACKGROUND & AIMS: Inborn errors of bile acid metabolism may present as neonatal cholestasis and fat-soluble vitamin malabsorption or as late onset chronic liver disease. Our aim was to fully characterize a defect in bile acid synthesis in a 2-week-old African-American girl presenting with coagulopathy, vitamin D and E deficiencies, and mild cholestasis and in her sibling, whose liver had been used for orthotopic...
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