Biological implications of the Niemann-Pick C mutation.
Pentchev
P G
PG
National Institute of Neurological Disorders and Stroke, Developmental and Metabolic Neurology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA.
Blanchette-Mackie
E J
EJ
Liscum
L
L
D000736:Androstenes / Q000494:pharmacology; D000818:Animals; D000924:Anticholesteremic Agents / Q000494:pharmacology; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism*; D002788:Cholesterol Esters / Q000378:metabolism; D006056:Golgi Apparatus / Q000378:metabolism; D006801:Humans; D008074:Lipoproteins / Q000378:metabolism; D008247:Lysosomes / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000378:metabolism*
D000736:Androstenes; D000924:Anticholesteremic Agents; D002788:Cholesterol Esters; D008074:Lipoproteins; C006261:3-beta-(2-(diethylamino)ethoxy)androst-5-en-17-one; D002784:Cholesterol