Shammas, Hadeel; Kuech, Eva-Maria; Rizk, Sandra; Das, Anibh M.; Naim, Hassan Y.
(2019-09-20)
Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage disease characterized by a defect in the trafficking of endocytosed cholesterol. In 95% of patients the gene encoding NPC1 is affected. The correlation ...