Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up

@article{Knoll2004CystinuriaIC,
  title={Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up},
  author={Thomas Knoll and Antonia Z{\"o}llner and Gunnar Wendt-Nordahl and Maurice Stephan Michel and Peter Alken},
  journal={Pediatric Nephrology},
  year={2004},
  volume={20},
  pages={19-24}
}
Cystinuria, an autosomal-recessive disorder of a renal tubular amino acid transporter, is the cause of about 10% of all kidney stones observed in children. Different genetic characteristics are not represented by different phenotypes. The stones are formed of cystine, which is relatively insoluble at the physiological pH of urine. Without any preventive measures, the patients will suffer from recurrent stone formation throughout their life. Even with medical management, long-term outcome is… CONTINUE READING

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The population - specific distribution and frequencies of genomic variants in the SLC 3 A 1 and SLC 7 A 9 genes and their application in molecular genetic testing of cystinuria

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