NTBC dosing and outcomes in hereditary tyrosinemia type 1: insights from a representative human model and 99 patients
Quang Toan Pham, Farzaneh Tamnanloo, Marie-Agnès M’Callum, E Beaulieu, Rasha Mghabghab, Yves Théorêt, Grant A. Mitchell, the Quebec NTBC Study Group, Denis Cyr, Paula J. Waters, Y Doyon, Ugur Halac, C. Casini Raggi, Massimiliano Paganelli
This study identifies the minimal effective NTBC dose to prevent liver damage in HT1 using an in vitro model and validates it in 99 patients, while highlighting residual gene dysregulation linked to cancer risk.
bioRxiv · Oct 6, 2025 · PreprintGenetics