Abstract
Background and Aims: Lysosomal acid lipase deficiency (LAL-D) is a rare lysosomal storage disease, which is manifested by hypercholesterolemia and progressive hepatopathy. Universal familial hypercholesterolemia (FH) screening program in pre-school children in Slovenia enables also detection of other disorders manifesting with hypercholesterolemia, among them LAL-D. We aimed to assess the efficacy of universal FH screening program to detect LAL-D patients.
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