@article{604821d669e74b0c8bab5225081b7acc,
title = "Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis",
abstract = "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.",
author = "Schnaper, {H. William} and Jill Cottel and Suzanne Merrill and Eric Marcusson and Kissane, {John M.} and Shackelford, {Gary D.} and So, {Samuel K S} and Nelson, {Raoul D.} and Cole, {Barbara R.} and Smith, {Margaret L.} and Schneider, {Jerry A.}",
note = "Funding Information: A pale, fair-skinned, 10-month-old girl with thin, blond hair was seen at St. Louis Children's Hospital with severe growth failure, renal tubular acidosis, phosphaturia, and proteinuria (2+). Her blood urea nitrogen level was 1.4 mmol/L (4 mg/dl) and her se- Supported in part by grant No. PHS DK 18434 from the National Institutes of Health, Summer Science Research Program for Medical Students grant No. 8 FY91-9 from the March of Dimes-Birth Defects Foundation (to J.C.), the Cystinosis Foundation, the Bernard L. Maas Foundation, Mr. Peter Solomon, and the ESHE Fund. Received for publication Sept. 9, 1991; accepted Oct. 29, 1991. Reprint requests: H. William Schnaper, MD, Department of Nephrology, Children's National Medical center, 111 Michigan Ave., N.W., Washington, DC 20010.",
year = "1992",
month = apr,
doi = "10.1016/S0022-3476(05)82486-2",
language = "English (US)",
volume = "120",
pages = "575--578",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "4 PART 1",
}