OPEN Clinical chemistry | 18 Jan 2018
S Masi, N Chennamaneni, F Turecek, CR Scott and MH Gelb
Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS).
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