Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
Mutaz SultanAnuradha RaoOrly ElpelegFrédéric M VazBassam Abu-LibdehSaul J KarpenPaul A DawsonPublished in: Hepatology (Baltimore, Md.) (2018)
The findings identify OSTβ deficiency as a cause of congenital chronic diarrhea with features of cholestatic liver disease. These studies underscore OSTα-OSTβ's key role in the enterohepatic circulation of bile acids in humans. (Hepatology 2017).