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.

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

Models to study basic and applied aspects of lysosomal storage disorders - ScienceDirect

Clinical applications of gene therapy for rare diseases: A review - Papaioannou - 2023 - International Journal of Experimental Pathology - Wiley Online Library

Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects

Clinical applications of gene therapy for rare diseases: A review - Papaioannou - 2023 - International Journal of Experimental Pathology - Wiley Online Library

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

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Niemann–Pick Disease Type C

Drug Delivery System for Niemann Pick Type C1 Disease Discovered