Article

Inhibition of acid ceramidase as a therapeutic strategy for Niemann-Pick C disease

2024-11-15

Abstract excerpt

Lysosomal storage disorders (LSDs) are a group of individually rare diseases that as a group constitute the most common forms of childhood neurodegeneration. These life limiting and life shortening diseases have the largest economic burden per patient of any rare disease with the majority being orphan diseases with no disease modifying therapy. Whilst there is significant development in the area of gene therapies...

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Literature Corpus work: 03d27f34-eba2-5c03-80fe-30db06e1cd9d
DOI: 10.1101/2024.11.13.623427

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