Biochemical analysis of liver biopsy specimens, bone marrow, peripheral white and red cells, and serum for the diagnosis in vivo of Niemann-Pick disease.
D001707:Biopsy, Needle; D001853:Bone Marrow / Q000032:analysis*; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood / Q000378:metabolism; D002855:Chromatography, Thin Layer; D004912:Erythrocytes / Q000032:analysis*; D005260:Female; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000032:analysis*; D008055:Lipids / Q000032:analysis* / Q000097:blood; D008099:Liver / Q000032:analysis*; D008297:Male; D009542:Niemann-Pick Diseases / Q000097:blood / Q000175:diagnosis*; D010713:Phosphatidylcholines / Q000032:analysis / Q000097:blood; D010714:Phosphatidylethanolamines / Q000032:analysis / Q000097:blood; D013109:Sphingomyelins / Q000032:analysis / Q000097:blood
D008055:Lipids; D010713:Phosphatidylcholines; D010714:Phosphatidylethanolamines; D013109:Sphingomyelins; D002784:Cholesterol