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Up to: Inborn disorder of lysosomal amino acid transport
Cystinosis
Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
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Nephropathic cystinosis 4 trials Sub-types →
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Ocular cystinosis 0 trials