Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.
D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000201:enzymology; D002247:Carbon Isotopes; D002648:Child; D002675:Child, Preschool; D046508:Culture Techniques; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D009542:Niemann-Pick Diseases / Q000201:enzymology*; D010740:Phospholipases / Q000378:metabolism*; D012867:Skin / Q000201:enzymology; D013109:Sphingomyelins / Q000378:metabolism*
D002247:Carbon Isotopes; D013109:Sphingomyelins; D010740:Phospholipases