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Lathosterolosis is a rare defect of cholesterol synthesis. Only four previous cases have been reported, two of whom were siblings… Expand Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5… Expand We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol… Expand Sterols are crucial lipid components that regulate membrane permeability and fluidity and are the precursors of bioactive… Expand Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7… Expand Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol‐C5‐desaturase. Only two… Expand Lathosterol 5-desaturase catalyzes the conversion of lathosterol to 7-dehydrocholesterol in the next to last step of cholesterol… Expand PURPOSE OF REVIEW
This review covers a group of human malformation syndromes, which are caused by inborn errors of cholesterol… Expand We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis… Expand Cholesterol has long been known to function as both a structural lipid and a precursor molecule for bile acid and steroid hormone… Expand