ba0004op7 | (1) | ICCBH2015
Gambari Laura
, Manferdini Cristina
, Gabusi Elena
, Paolella Francesca
, Lisignoli Gina
, Mariani Erminia
, Grassi Francesco
Objective: Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency, is a rare autosomal recessively inherited disease characterized by the multiple involvement on different organs. While the most striking cause of morbidity and mortality is thromboembolism, patients develop a marked osteoporosis at early age along with many other skeletal abnormalities. As CBS normally converts homocysteine to cystathionine, the result of CBS deficiency is an accumulation ...