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Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12833
Abstract: There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited singleāgene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional…
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Keywords:
unifying biology;
lysosomal storage;
biology;
storage diseases ... See more keywords