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References

These sources were used to develop the Genetics Home Reference condition summary on Wolman disease.

Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics. 1996 Apr 1;33(1):85-93. PubMed citation
Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C. Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract. 2004;200(3):231-40. PubMed citation
Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. J Lipid Res. 1999 Feb;40(2):221-8. PubMed citation
Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res. 1998 Jul;39(7):1382-8. PubMed citation
Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007 Jul;166(7):663-6. Epub 2006 Oct 11. PubMed citation
Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. J Lipid Res. 2001 Jul;42(7):1033-40. PubMed citation

Reviewed: October 2007

Published: May 20, 2013