Background Hereditary renal tubular disease can cause hypercalciuria,acid-base imbalance,hypokalemia,hypomagnesemia,rick......

目的探讨胱氨酸病的诊断。方法回顾性分析1例胱氨酸病患儿的临床、生化和基因检测资料。结果患儿,女,4岁。2岁时出现畏光,眼科检查......

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (......