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Seventy patients were selected to cover the range of variability in clinical expression of Niemann-Pick disease group C (NP-C). Their individual main clinical features and course of the disease (age(More)
A uniquely attenuated disruption of cholesterol homeostasis has been characterized in certain Niemann-Pick, type C (NP-C) fibroblasts. Uptake of LDL-cholesterol by cultured fibroblasts derived from(More)