Bile Acid Synthetic Defects and Liver Disease

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Setchell K , Schwarz M , O'Connell N , Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7α-hydroxylase gene causing severe neonatal liver disease. J Clin Invest 1998;102:1690–1703.

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Jacquemin E , Setchell K , O'Connell N , 3β-hydroxy-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid therapy on liver histology. J Inherit Metabol Dis 1994;15:38–46.

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Siafakas C , Jonas M , Perez-Atayde A. Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. J Pediatr Gastroenterol Nutr 1997;25:321–326.

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Daugherty C , Setchell K , Heubi J , Balistreri W. Resolution of hepatic biopsy alterations in 3 siblings with bile acid treatment of an inborn error of metabolism (4-3-oxosteroid 5-β-reductase deficiency). Hepatology 1993;18:1096–1101.

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Finegold M , Strohmeyer W , Noel A. Disruption of bile canalicular tight junctions in Zellweger syndrome [Abstract]. Arch Anat Cytol Pathol 1998;46:510.