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Xanthomatosis
- Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body. People with this disorder cannot break down ...
- ... Acid esterase deficiency Acid lipase deficiency Familial visceral xanthomatosis Familial xanthomatosis LAL deficiency LIPA deficiency Primary familial ...
- ... body. At least 90 mutations that cause cerebrotendinous xanthomatosis have been identified in the CYP27A1 gene. Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of ...
- Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids ...