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.
MeSH terms
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Acidosis, Renal Tubular / diagnosis
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Acidosis, Renal Tubular / physiopathology
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Acidosis, Renal Tubular / therapy
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Cystinosis / diagnosis*
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Cystinosis / physiopathology
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Cystinosis / therapy*
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Diagnosis, Differential
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Humans
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Infant
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Kidney Function Tests
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Kidney Transplantation
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Male
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Prognosis
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Urinalysis