Niemann-Pick disease type C(English)
- a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death. It is caused by mutations in the NPC1 and NPC2 genes
- NPC, SPC
- Genetics, Neuropathy
- https://doi.org…/1750-1172-5-16