cholesterol ester storage disease

cho·les·ter·ol es·ter stor·age dis·ease

[MIM*278000] a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q. Synonym(s): cholesteryl ester storage disease, Wolman disease, Wolman xanthomatosis

cho·les·ter·ol es·ter stor·age dis·ease

(kŏ-les'tĕr-ol es'tĕr stōr'ăj di-zēz') A lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal and lipase gene (LIPA) on chromosome 10q.
Synonym(s): Wolman disease, Wolman xanthomatosis.

Wolman,

Moske, Israeli neuropathologist, 1914–. Wolman disease - lipidosis caused by deficiency of liposomal acid lipase activity. Synonym(s): cholesterol ester storage diseaseWolman xanthomatosis

单词	cholesterol ester storage disease
释义	cholesterol ester storage disease cho·les·ter·ol es·ter stor·age dis·ease [MIM278000] a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q. Synonym(s): cholesteryl ester storage disease, Wolman disease, Wolman xanthomatosis cho·les·ter·ol es·ter stor·age dis·ease (kŏ-les'tĕr-ol es'tĕr stōr'ăj di-zēz') A lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal and lipase gene (LIPA) on chromosome 10q. Synonym(s): Wolman disease, Wolman xanthomatosis. Wolman, Moske, Israeli neuropathologist, 1914–. Wolman disease* - lipidosis caused by deficiency of liposomal acid lipase activity. Synonym(s): cholesterol ester storage diseaseWolman xanthomatosis See CESD See CESD
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