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These sources were used to develop the Genetics Home Reference
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.
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.
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.
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.
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.
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.
Reviewed: October 2007
Published: May 20, 2013
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