Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series
Abstract Niemann-Pick disease type C (NPC) disease is a lysosomal storage disorder caused by alterations in the trafficking of unesterified cholesterol due to mutations in the NPC1 and NPC2 genes.Its manifestations can be visceral, neurological, and psychiatric.This study conducts a retrospective review to assess the clinical, laboratory, molecular