Inborn disorder of amino acid transport

This study tests whether taking a daily alpha lipoic acid supplement can reduce the return of cystine kidney stones in people with cystinuria. Half of the 50 participants will take 1200 mg of the supplement daily for three years, and the other half will take a placebo. The main g…

This study tested whether a diabetes drug (SGLT2 inhibitor) could prevent cystine kidney stones in people with cystinuria, a genetic condition that causes painful, recurring stones. Ten adults took the drug to see if it would add glucose to their urine and stop cystine from formi…

This study tested whether a powerful genetic test called exome sequencing can find the cause of severe epilepsy in children when standard tests fail. Researchers studied 15 children with epileptic encephalopathy of unknown genetic origin. The goal was to see if this test could im…

This study looked at why people with Lowe syndrome, a rare genetic disorder, may have unusual bleeding. Researchers took blood samples from 30 patients to test how well their platelets work. The goal was to confirm and understand any platelet problems that could cause bleeding ev…