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"Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia"

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and M.L., to represent expertise across clinical and laboratory management and research in lipids from across the world

At least eight different inherited disorders of cholesterol biosynthesis are recognized in humans that lead to congenital abnormalities in those afflicted, including developmental malformation and neurologic defects, while deficiencies in the enzymes responsible for the hydrolysis of cholesterol esters, such as the lysosomal acid lipase, occur in Wolman disease and cholesterol ester storage disease