Medical Affairs

NPC Disease State

Disease state education for infantile-onset Niemann-Pick disease type C (I-NPC) to support clinical understanding and informed decision-making.

Epidemiology
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

2022

Orphanet Journal of Rare Disease
Epidemiology
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States

2021

Molecular Genetics & Metabolism
Epidemiology
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

2016

Genetics in Medicine

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