Article
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.
American journal of medical genetics. Part A - 1 Oct 2021
Rodriguez-Gil Jorge L, Bianconi Simona E, Farhat Nicole, Kleiner David E, Nelson Marie, Porter Forbes D
Abstract excerpt
Niemann-Pick disease type C (NPC) is a rare and fatal lysosomal storage disorder characterized by neurodegeneration and hepatic involvement. Mutations in either NPC1 or NPC2, two genes encoding lysosomal proteins, lead to an intracellular accumulation of unesterified cholesterol and sphingolipids in late endosomes/lysosomes. Early cholestatic disease is considered a hallmark of patients with early disease onset....
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