Article
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
The Journal of clinical investigation - 1 Nov 1998
Setchell K D, Schwarz M, O'Connell N C, Lund E G, Davis D L, Lathe R, Thompson H R, Weslie Tyson R, Sokol R J, Russell D W
Abstract excerpt
We describe a metabolic defect in bile acid synthesis involving a deficiency in 7alpha-hydroxylation due to a mutation in the gene for the microsomal oxysterol 7alpha-hydroxylase enzyme, active in the acidic pathway for bile acid synthesis. The defect, identified in a 10-wk-old boy presenting with severe cholestasis, cirrhosis, and liver synthetic failure, was established by fast atom bombardment ionization-mass...
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