Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

• Tác giả: Gabriella Allegri, Carlo Dionisi-Vici, Matthias Gautschi, Johannes Häberle, Ralf A Husain, Daniela Karall, Déborah Mathis, Karolina Orchel-Szastak, Martin Poms, Francesco Porta, Nicole Rimann, Dominique Roland, Véronique Rüfenacht, René Santer, Barbara Siri, Beat Thöny, Nadia Zürcher
• Ngôn ngữ: eng
• Ký hiệu phân loại: 617.5547 Regional medicine Regional surgery
• Thông tin xuất bản: England : npj metabolic health and disease , 2025
• Bộ sưu tập: NCBI
• ID: 745551

Tóm tắt

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 UHPLC-HRMS method to assess ureagenesis in plasma and dried blood spots for [