Article
The experience of living with Niemann-Pick type C: a patient and caregiver perspective.
Orphanet journal of rare diseases - 20 May 2023
Golden Emma, van Gool Raquel, Cay Mariesa, Goodlett Benjamin, Cao Amanda, Al-Hertani Walla, Upadhyay Jaymin
Abstract excerpt
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of cholesterol and other lipids in late endosomes/lysosomes, thereby resulting in a spectrum of neurological, psychiatric, and systemic symptoms (notably liver disease). Though it is well-known that NPC exacts a physical and emotional toll on both patients and caregivers, the burden of NPC can vary...
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