Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly
Author:
Publisher
Elsevier BV
Subject
Gastroenterology
Reference44 articles.
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3. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation;vom Dahl;J Hepatol,1999
4. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C;Ries;J Inherit Metab Dis,2006
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