Article
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
Biochemical and molecular medicine - 1 Oct 1997
Redonnet-Vernhet I, Chatelut M, Basile J P, Salvayre R, Levade T
Abstract excerpt
The molecular defects in the LIPA gene encoding the lysosomal acid lipase (LAL) were investigated in two unrelated patients affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL-deficient activity. In cell lysates from both patients there was a severely reduced LAL activity. In a female patient, nucleotide sequencing of amplified LAL genomic DNA or...
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