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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 S, Harzer K, Rolfs A, Albrecht B, Niederau C, Vogt C, van Weely S, Aerts J, Müller G, Häussinger D. vom Dahl S, et al. J Hepatol. 1999 Oct;31(4):741-6. doi: 10.1016/s0168-8278(99)80356-0. J Hepatol. 1999. PMID: 10551400
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