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

LIver abnormalities in patients with Gaucher's disease.

Clinical and liver histopathological observations are described in 25 patients with Gaucher's disease. Although 24 patients had hepatomegaly, and the majority had abnormalities of serum transaminases, alkaline phosphatase, and BSP clearance, only 3 had evidence of portal hypertension and complications of advanced liver disease. Liver biopsies showed scattered foci of Gaucher cells in 5 patients and prominent centrilobular accumulation of Gaucher cells in 14 patients. Three patients had cirrhosis, which was associated with extensive replacement of the liver by storage cells. The severity of liver abnormalities correlated with the occurrence of other severe complications of Gaucher's disease. The wide spectrum of liver abnormalities in Gaucher's disease should be considered in evaluating trials of therapeutic enzyme replacement.[1]


  1. LIver abnormalities in patients with Gaucher's disease. James, S.P., Stromeyer, F.W., Chang, C., Barranger, J.A. Gastroenterology (1981) [Pubmed]
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