- Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
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Lee EH, Kim YH, Hwang JS, Kim SH
- KMID: 1713853
- J Korean Med Sci.
- 2010 Jan;25(1):172-175.
- doi: 10.3346/jkms.2010.25.1.172
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and... -
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- Multimodal Treatments of Cystine Stones: An Observational, Retrospective Single-Center Analysis of 14 Cases
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Shim M, Park HK
- KMID: 1794585
- Korean J Urol.
- 2014 Aug;55(8):515-519.
- doi: 10.4111/kju.2014.55.8.515
PURPOSE: To document the experiences of a single institution in evaluating the clinical courses and treatment outcomes of patients with cystine stones. MATERIALS AND METHODS: The clinical data of 14 patients... -
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