The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin.
D002794:Choline / Q000031:analogs & derivatives*; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D009596:Nitrophenols; D010767:Phosphorylcholine / Q000031:analogs & derivatives*
D009596:Nitrophenols; D010767:Phosphorylcholine; C010733:2-hexadecanoylamino-4-nitrophenylphosphorylcholine; D002794:Choline