04091 Verification and implementation of chromsystems HPLC kit for urinary porphyrins at North Estonia medical centre

So, briefly, in 2022, of the 24 samples for porphyria request, we characterized 4 patients with porphyria.In 2023, of the 69 requests for porphyria, we characterized 12 patients with porphyria from the biochemical and molecular point of view.Last year, the National Authority of Medicines and Health Products, I.P. (INFARMED) approved the ribonucleic acid interference (RNAi) therapy (givosiran; GIVLAARI , Alnylam Pharmaceuticals, Cambridge, MA, USA).Porphyria exists, we just have to look for it!