Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.


BACKGROUND AND OBJECTIVES Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of onset: infantile cystinosis, characterized by renal proximal… (More)
DOI: 10.2215/CJN.01740407


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