Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis by admin | Oct 16, 2025 | Publications | 0 comments Zikanova M, Skopova V, Stuurman KE, et al (2025) J Inherit Metab Dis 48:1–8 https://doi.org/10.1002/jimd.70041 Submit a Comment Cancel replyYou must be logged in to post a comment.