Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Mario Cortina-BorjaDanielle Te VruchteEugen MengelYasmin AmraouiJackie ImrieSimon A JonesChristine I DaliPaul FineranThomas KirkegaardHeiko RunzRobin LachmannTatiana Bremova-ErtlMichael StruppFrances Mary PlattPublished in: Orphanet journal of rare diseases (2018)
ASIS has the potential to be a useful metric for clinical monitoring, trial recruitment, for prognosis and measuring response to therapy.