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doi:10.1371/journal.pone.0004871 Gurer-Orhan, Hande et al
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Nephropathic cystinosis mimics the effects of cysteine deficiency and results from a genetic defect in the lysosomal cystine transporter, which leads to a high level of cystine accumulation in the lysosome with corresponding low levels of cysteine in the cytosol (Kumar and Bachhawat, 2010)
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