Treating lysosomal storage disorders: What have we learnt?
Author:
Affiliation:
1. Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery London UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12131
Reference40 articles.
1. The cellular pathology of lysosomal diseases
2. Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases
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4. Enzyme replacement therapy for lysosomal storage diseases
5. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
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