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LINCL fibroblasts present null TPP1 enzyme activity and accumulation of ceroid lipopigment. A, TPP1 enzymatic activity in fibroblasts derived from a healthy individual (WT) and from a patient affected by LINCL conducted as described under “Experimental Procedures.” n ≥ 3; p < 0.01. B, confocal microscopy analysis of ceroid lipopigment in fibroblasts derived from a healthy individual (WT) and from a patient affected by LINCL. The scale bar is 50 μm. AU, absorbance units.
