wolman disease/phosphatase

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Muscular involvement in lysosomal acid lipase deficiency in rats.

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We investigated the pathological and biochemical changes of skeletal muscle in rats with lysosomal acid lipase deficiency, which is an animal counterpart of human Wolman's disease. In the affected rats, the acid lipase activity for three different substrates, 4-methylumbelliferyl-oleate (18.9% of

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

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Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause reduced activity of lysosomal acid lipase, which results in accumulation of cholesteryl esters in lysosomes. If enzyme activity is very

Lipolysosomes in human hepatocytes. Ultrastructural and cytochemical studies of patients with Wilson's disease.

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Lipid droplets surrounded by a peripheral membrane closely apposed to an electron-dense layer and containing acid phosphatase activity, similar to the lipolysosomes in hamsters described by Nehemiah and Novikoff (J. Cell Biol. 59: 246a, 1973; Exp. Mol. Pathol. 21:398, 1974), were found in the

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