Associated Papers
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 2023
Cystinuria: genetic aspects, mouse models, and a new approach to therapy.
Sahota A et al.
Urolithiasis, 2019
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S9
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
Kim JH et al.
Journal of Korean Medical Science, 2017
A case of cystinuria presenting with cerebellar ataxia and dementia.
Tohge R et al.
Practical Neurology, 2016
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
Lee EH et al.
Journal of Korean Medical Science, 2010
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