Gene therapy shows promise for treating Niemann-Pick disease type C1

NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.

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

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Media Advisory: Repurposed ALS drug shows promise in mouse model of rare childhood genetic disorder

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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Researchers find immune component to rare neurodegenerative disease

The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease - ScienceDirect

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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Family races to raise money for research no one will fund - The Boston Globe

Advancements in Niemann-Pick Disease Type C Treatments

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management