Hendriksz, Christian J.; Vanier, Marie T.; Bauer, Peter; Coll, Maria J.; Burlina, Alberto; Latour, Philippe; Goizet, Cyril; Welford, Richard W.D.; Marquardt, Thorsten; Kolb, Stefan A.; Bauer, Peter
(Elsevier, 2016-08)
Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder
caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due ...