Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.
D000653:Amniotic Fluid / Q000032:analysis; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies; D009474:Neurons; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012007:Rectum / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis
D013108:Sphingomyelin Phosphodiesterase