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familial xanthomatosis meaning

  • [Medicine]
    The severe infantile form of inherited lysosomal lipid storage diseases,due to deficiency of acid lipase. It results in accumulation of neutral lipids,particularly cholesterol esters,within cells (particularly leukocytes,fibroblasts,and liver cells). An allelic variant of CHOLESTEROL ESTER STORAGE DISEASE,it is also known as Wolman's xanthomatosis.

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