Article
Rapid and Simple Assay for the Determination of Tripeptidyl Peptidase and Palmitoyl Protein Thioesterase Activities in Dried Blood Spots
1 Mar 2003
Abstract excerpt
Neuronal ceroid lipofuscinoses constitute a group of at least eight inherited, progressive encephalopathies that are characterized by lipofuscin-like inclusions in various tissues and that have recently been classified as CLN1 to CLN8 according to their genetic defects (1). A form with mostly infantile manifestation (CLN1) and the classical late infantile form (CLN2) are caused by deficiencies of the lysosomal...
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