Type C Niemann-Pick disease.
Kennedy
G A
GA
Department of Clinical and Laboratory Haematology, Princess Alexandra Hospital, Queensland, Australia.
Cobcroft
R
R
Marlton
P
P
Silburn
P
P
Walsh
M
M
Boyle
R
R
D000328:Adult; D001856:Bone Marrow Examination; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006644:Histiocytes / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology; D008264:Macrophages / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000378:metabolism / Q000473:pathology*; D012867:Skin; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism
D002784:Cholesterol; D013108:Sphingomyelin Phosphodiesterase