Cystinosis: A defect of lysosomal cystine efflux

Bioessays 2 (4):162-164 (1985)
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Abstract

The metabolic defect which results in the accumulation of cystine within tissues of children with the recessively inherited disease cystinosis has baffled investigators for almost half a century. Investigations by numerous laboratories have finally culminated in the delineation of the basic defect in this unusual disorder.

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10.1002/bies.950020406

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