Pharmacological treatment of nephropathic cystinosis with cysteamine.


Cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. This gene codes for a lysosomal cystine transporter, whose absence leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood and other… (More)


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