Cystinosis - Pathophysiology
<p>Cystinosis is a rare autosomal recessive lysosomal storage disorder affecting 1 in 100,000 - 200,000 live births. It is caused by a mutation in the Cystinosin (CTNS) gene, a cystine-proton cotransporter, the absence of which results in intra-lysosomal accumulation of cystine. Kidneys are af...
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Archives of Clinical Nephrology - Peertechz Publications,
2023-06-13.
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