Abstract
Porphyrias are the group of orphan diseases, related to pathological disruptions of heme biosynthesis. These diseases are hard to diagnose timely and existing methods lack universality. High performance liquid chromatography coupled with ultraviolet detector could be adapted for this purpose via determination of porphyrins in human urine. Waters Acquity UPLC H-CLASS with diode matrix was used in this study. Developed method allows determining the inner standard and 9 biomarkers, each connected to specific stage of heme biosynthesis. Developed method is validated for porphyrias diagnosis.
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