Plasma and urinary NMR metabolic profiling of the phenylalanine-tyrosine pathway in nitisinone-treated alkaptonuria: comparison of two dosing regimens and identification of a candidate pharmacodynamic biomarker. (PubMed, Mol Genet Metab) - Sep 3, 2026 - "These findings highlight the complementary diagnostic value of plasma and urinary NMR profiling and underscore the limitations of current dosage strategies in controlling nitisinone-induced hyper-tyrosinaemia. NMR metabolomics provides a non-invasive, simultaneous snapshot of pathway-wide metabolic changes and represents a powerful tool for personalised therapeutic monitoring in AKU."
Biomarker • Journal • PK/PD data • Metabolic Disorders
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Andrea Bernini; Andrea Mazzon; Annalisa Santucci; Bruno Frediani; Daniela Grasso; Elena Bianchi; Gabriella Iacomelli; Luana Peruzzi; Marco Bardelli; Valentina Balloni
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