Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious.
D002648:Child; D002675:Child, Preschool; D003951:Diagnostic Errors; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing / Q000379:methods*; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000032:analysis*; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase