Cholestasis in infancy

Hoffenberg, E.J., Narkewicz, M.R., Sondheimer, J.M., Smith, D.J., Silverman, A., Sokol, R.J. Outcome of syndromic paucity of interlobular bile ducts ( Alagille syndrome) with onset of cholestasis in infancy. J. Pediatr. 1995 127 220-224... 

The known variants leading to cerebrotendinous xanthomatosis have been reviewed [2560]. Mutation in the gene has been associated with fatal cholestasis in infancy [2561]. Variants have also been hnked to susceptibility to amyotrophic lateral sclerosis [2562]. 

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