Stadthagen and Brieger have also found, in a case of cystinuria diamines, chiefly pentamethylenediamine. |
A urinary screen for cystine, if the diagnosis of cystinuria is not excluded by stone analysis, should be considered. |
Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. |
Scientists at Bethesda, Maryland, recently located a gene responsible for cystinuria, a common hereditary cause of kidney stones worldwide. |
Cystinuria is an autosomal recessive genetic disorder characterized by a defect in dibasic amino acid transporters. |