Methods for the diagnosis of disturbance in intracellular lipid metabolism

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The purification, characterization and cloning of several proteins involved in cellular uptake, lysosomal degradation, intracellular trafficking, and metabolism of sterols and lipids has permitted a rapid expansion in our understanding of the metabolic basis of inherited disorders of cellular lipid metabolism. The discovery of several allelic variants of lysomal acid sphingomyelinase and lysosomal acid lipase has not only provided insights into genotype-phenotype relationships in Niemann-Pick disease, Wolman disease and cholesteryl ester storage disease but will also contribute to simple future molecular diagnosis of these disorders.

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