Sphingomyelinase defect in Niemann-Pick disease, type C, fibroblasts.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D009542:Niemann-Pick Diseases / Q000201:enzymology*; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency* / Q000378:metabolism
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase