For instance, a study on a specific mutation (p.R336C) found that it significantly reduces the enzymatic activity of CBS, leading to severe homocystinuria symptoms. This research provided insights ...

Doha, Qatar: A recent research study conducted by members of Qatar University's (QU) health Sector titled“Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical ...

A recent research conducted by members of Qatar University’s (QU) Health Sector delineated the mechanism that a mutation in a gene encoding for an important protein can lead to homocystinuria ...

Travere Therapeutics research and development senior vice ... "Travere pauses enrolment in Phase III homocystinuria treatment ...