Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Yang Amy C, Bier Louise, Overbey Jessica R, +4 more·Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or…