Wolman’s Disease


Cholesteryl Ester Lysosomal Storage Disease Cholesteryl Ester Hydrolase Acid Lipase Lysosomal Acid Lipase 
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  1. Anderson R, Byrum R, Coates P, and Sando G (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91: 2718PubMedGoogle Scholar
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  5. Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier M, et al (1998) Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Hum Mutat 12: 44CrossRefPubMedGoogle Scholar
  6. Wolman F, Sterck V, Gatt S, and Frenkel M (1961) Primary familial xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant. Pediatrics 28: 742PubMedGoogle Scholar

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© Springer-Verlag/Wien 2005

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