A report of a patient with Niemann-Pick disease type B and a review of the patients in Japan.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007564:Japan; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000453:epidemiology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency
D013108:Sphingomyelin Phosphodiesterase