Found 2 datasets matching "lysosomal-storage-disease".
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Background Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before...
Search relevance: 75.26 | Views last month: 0 -
Background Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The...
Search relevance: 70.07 | Views last month: 1
