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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Liver transplantation for cholesteryl ester storage disease.

This case describes a patient with cholesteryl ester storage disease who underwent liver transplantation for progressive cirrhosis, portal hypertension, ascites, and uncontrollable gastrointestinal bleeding. Four and one-half years posttransplant, her growth improved, cholesterol levels have returned to normal, and she is clinically well except for mild hypersplenism and an elevated blood urea nitrogen (BUN) and creatinine. Serum triglycerides remain elevated, but there have been no signs of progressive renal, intestinal, vascular, or pulmonary disease.[1]


  1. Liver transplantation for cholesteryl ester storage disease. Ferry, G.D., Whisennand, H.H., Finegold, M.J., Alpert, E., Glombicki, A. J. Pediatr. Gastroenterol. Nutr. (1991) [Pubmed]
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