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Case Reports
. 1997 Sep;18(9):302-4.
doi: 10.1542/pir.18-9-302.

Nephropathic cystinosis

W A Gahl  1
Affiliations
Case Reports

Nephropathic cystinosis

W A Gahl. Pediatr Rev. 1997 Sep.

Abstract

Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic, pathologic process-cystine accumulation. Early diagnosis and therapy are critical to optimize the prognosis.

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