Early prediction of phenotypic severity in Citrullinemia Type 1.
Matthias ZielonkaStefan KölkerFlorian GleichNicolas StützenbergerSandesh C S NagamaniAndrea L GropmanGeorg F HoffmannSven F GarbadeRoland Possetnull nullPublished in: Annals of clinical and translational neurology (2019)
Residual enzymatic ASS1 activity reliably predicts the phenotypic severity in CTLN1. We propose a new severity-adjusted classification system for individuals with CTLN1 based on the activity results of the newly established biallelic expression system.