Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Svenja ScharreRoland PossetSven F GarbadeFlorian GleichMarie J SeidlAnn-Catrin DruckJürgen G OkunAndrea L GropmanSandesh C S NagamaniGeorg F HoffmannStefan KölkerMatthias Zielonkanull nullPublished in: Annals of clinical and translational neurology (2022)
Residual enzymatic OTC activity reliably predicts the disease severity in mOTC-D and could thus serve as a tool for severity-adjusted evaluation of therapeutic strategies and counselling patients and parents.