Samuel So
Publication Details
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Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.
J Pediatr. 1992; (4 Pt 1): 575-8
We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.
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