The experience of living with Niemann-Pick type C: a patient and caregiver perspective.
Emma GoldenRaquel van GoolMariesa CayBenjamin GoodlettAmanda CaoWalla Al-HertaniJaymin UpadhyayPublished in: Orphanet journal of rare diseases (2023)
The findings derived from focus group discussions highlight the outstanding challenges that NPC patients and their caregivers face daily, while also providing direction on the potential scope and feasibility of future studies focusing on the central phenotypes of NPC.