[Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase].


Activity of several lysosomal hydrolases was studied in skin fibroblasts obtained from two brothers living in GDR. Both patients exhibited distinct clinical symptoms of severe neurovisceral disease. Analysis of the lysosomal enzymes activity enabled to exclude possible occurrence in the patients of such glycolipidoses as Gaucher's disease, Sandhoff's… (More)