Abstract Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts of NPC1 mutations. we examined fibroblast cultures from 26 NP-C1 patients with clinical phenotypes ranging from infantil... https://www.remtavares.com/