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Case Report

Min Ho Jung, Seung On Keun, Soon Ju Lee, Byung Churl Lee

Clin Exp Pediatr. 2003;46(6):615-619. Published online June 15, 2003

Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues, causing growth retardation, Fanconi syndrome, renal failure, eye problems, and endocrinopathies. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. The diagnosis of cystinosis was made by measuring the...

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