从病理机制到靶向干预：溶酶体贮积症治疗进展

Key Points

• The aim is to categorize lysosomal storage diseases and evaluate advanced targeted treatment strategies based on their pathological mechanisms.
• Classification of lysosomal storage diseases based on pathogenesis.
• Summary of clinical phenotypes and pathological features of various LSDs.
• Review of therapeutic strategies including gene compensation, enzyme replacement, and downstream interventions.
• Identified critical steps in the pathological cascades of different LSDs.
• Evaluated the progress and challenges of various treatment modalities.
• Highlighted potential for combined therapeutic approaches in enhancing efficacy.

Abstract