Familial Xanthomatosis
《英文msh詞典》Familial Xanthomatosis
[入口詞] Familial Xanthomatosis
[主題詞] Wolman Disease
[中文釋義] 家族性黃瘤病
[英文釋義] 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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