Individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs.
By correlating practices and outcomes globally, our DOPPS program identifies best practices and modifiable characteristics that enhance the health and well-being of patients with kidney disease.
Featuring new scientific work with internationally-known speakers, expert panels, early career investigators, and audience participation.
Large-scale proteomics identified SEMA6B, SFRP3, COMMD7, BMX, and VCAM1 as biomarkers highly associated with clinical portal hypertension in children with biliary atresia. The expression of the biomarkers in liver epithelial, endothelial, and immune cells support their potential role in the mechanisms that cause portal hypertension.
