Niemann-Pick disease type C could result from a genetic deficiency of cholesterol egress from the lysosomes.
Den Tandt
W R
WR
Faculty of Medicine, University of Antwerp (UIA), Belgium.
van Hoof
F
F
D002462:Cell Membrane / Q000378:metabolism / Q000473:pathology; D002784:Cholesterol / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D006868:Hydrolysis; D008247:Lysosomes / Q000378:metabolism* / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000378:metabolism
D002784:Cholesterol