Cystinosis: the evolution of a treatable disease

@inproceedings{Nesterova2012CystinosisTE,
  title={Cystinosis: the evolution of a treatable disease},
  author={Galina Nesterova and William A Gahl},
  booktitle={Pediatric Nephrology},
  year={2012}
}
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have… CONTINUE READING
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Highly Influential
5 Excerpts

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