Identification and characterization of cystinuria modulating genes: L-Ergothioneine as a potential treatment for preventing cystine lithiasis 

Mayayo Vallverdú, Clara (Date of defense: 2021-11-29)

[eng] Cystinuria, with a worldwide prevalence estimated at 1:7000, is a rare inherited disease characterized by urine hyperexcretion of cystine and dibasic amino acids. Its clinical manifestation is cystine lithiasis in ...