[Niemann-Pick type C disease (author's transl)].
D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006644:Histiocytes / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000378:metabolism / Q000473:pathology*; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis; D013154:Spleen / Q000473:pathology
D013108:Sphingomyelin Phosphodiesterase
La enfermedad de Niemann-Pick tipo C.