Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005732:Gangliosides / Q000378:metabolism*; D006596:Hexosaminidases / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D007962:Leukocytes / Q000201:enzymology; D012867:Skin / Q000201:enzymology*
D005732:Gangliosides; D006596:Hexosaminidases