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- W2076313268 abstract "CYSTINOSIS is a rare autosomal recessive metabolic disorder of children and adults, characterized biochemically by intracellular accumulation of free, nonprotein cystine crystals in the reticuloendothelial system, as well as in different tissues of the body, such as the kidneys, bone marrow, and cornea. Depending on the degree of cystine accumulation, three different forms of the disease are recognized1 , 2: the infantile nephropathic form, the intermediate or late-onset adolescent form, and the benign adult form, which presents without nephropathy. Whereas the one extreme, the adult form, is diagnosed only by chance, the other extreme, infantile cystinosis, inevitably leads to terminal renal . . ." @default.
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- W2076313268 date "1985-12-05" @default.
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- W2076313268 title "Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine" @default.
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- W2076313268 doi "https://doi.org/10.1056/nejm198512053132307" @default.
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