Transplantační medicína

Early identification of presymptomatic autoimmune T1D may reduce the psychological burden experienced at diagnosis by giving time for preparation and education

Using a sample pediatric case study (Rosa), this video describes how autoantibody screening can enable early detection of presymptomatic T1D, providing a window of opportunity to prepare for clinical diagnosis

Rosa is an 8-year-old child with presymptomatic autoimmune T1D, but neither she nor her family know this yet. Without prior knowledge, she may be at increased risk of DKA at clinical onset of T1D

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation
^{Fares AH, et al. Mol Genet Metab Rep. 2024;41:101141.}