Characterization and treatment monitoring of ureagenesis disorders using stable isotopes

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes

Abstract Urea cycle disorders (UCDs) are a group of rare conditions, possibly life-threatening and without definitive cure besides liver transplantation. Traditional biochemical analyses/biomarkers cannot reliably determine changes in the UC-function from baseline to post-intervention. We describe a...

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Main Authors: Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A. Husain, Daniela Karall, Karolina Orchel-Szastak, Francesco Porta, Dominique Roland, Barbara Siri, Carlo Dionisi-Vici, René Santer, Johannes Häberle
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Metabolic Health and Disease
Online Access:https://doi.org/10.1038/s44324-025-00051-8
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https://doi.org/10.1038/s44324-025-00051-8

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