A case of cystinuria with a heterozygous mutation presenting with recurrent multiple renal stones in a 14-year-old boy
Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine. Most patients develop cystine stones throughout their lifetime. Recurrent renal stones need to be...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Nephrology,
2023-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |