599
The journal Journal of Korean Medical Science has published an article about genotype and phenotype analysis in pediatric patients with cystinuria. Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. The full-text article you can find here.