Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy

Author:

Boldrini Renata,Devito Rita,Biselli Roberto,Filocamo Mirella,Bosman Cesare

Publisher

Elsevier BV

Subject

Cell Biology,Pathology and Forensic Medicine

Reference19 articles.

1. Generalized xanthomatosis with calcified adrenals;Abramov;J. Dis. Child,1956

2. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease;Anderson;Mol. Genet. Metab.,1999

3. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2–q2-23.3;Anderson;Genomics,1993

4. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity;Aslanidis;Genomics,1996

5. G. Assman, U. Seedorf, Acid Lipase Deficiency: Wolman disease and cholesteryl ester storage disease. In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, (Eds.), The metabolic and molecular bases of inherited disease, 7th Edition, Vol. 2, McGraw-Hill Book Co, New York, 1998. pp. 3551–3572.

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