A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.
JIMD reports（2019）
Abstract
Lysosomal acid lipase deficiency responsible for Wolman disease and cholesterol ester storage disease could be reliably detected using a kinetic assay of total lipase activity with a fluorogenic substrate.
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Key words
Lalistat‐2‐independent assay,Wolman disease,cholesterol ester storage disease,lysosomal acid lipase
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