Brogden, Graham; Shammas, Hadeel; Walters, Friederike; Maalouf, Katia; Das, Anibh M.; Naim, Hassan Y.; Rizk, Sandra
(2020-07-15)
Niemann-Pick Type C (NPC) is an autosomal recessive lysosomal storage disease leading to progressive neurodegeneration. Mutations in the NPC1 gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal ...