Niemann-Pick type C disease in a 68-year-old patient.
Trendelenburg
G
G
Vanier
M T
MT
Maza
S
S
Millat
G
G
Bohner
G
G
Munz
D L
DL
Zschenderlein
R
R
D017668:Age of Onset; D000368:Aged; D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D008562:Membrane Glycoproteins / Q000235:genetics; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein