Niemann-Pick disease type B in an Irish family.
D002675:Child, Preschool; D006801:Humans; D007494:Ireland; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis
D013108:Sphingomyelin Phosphodiesterase