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.

PDF) Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Niemann–Pick Disease Type C

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

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

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

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

Niemann-Pick disease type C as a neurovisceral disease. Schematic

PPT - Niemann -Pick Disease PowerPoint Presentation, free download - ID:2977714

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

Reality of Rare Diseases: A Unique Perspective About Rare Diseases

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS - The Lancet Child & Adolescent Health

delta – Columbus Children's Foundation

Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease