The diagnostic challenge of mild citrulline elevation at newborn screening
Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, G. Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo la Marca, Francesca Romana Lepri, Antonio Novelli, Cláudia Rossi, Michela Semeraro, Carlo Dionisi‐Vici
Topics & Concepts
Argininosuccinate synthaseUrea cycleCitrullineArgininosuccinate lyaseDifferential diagnosisBiomarkerMedicineInternal medicineChemistryBiochemistryArginineAmino acidPathologyMetabolism and Genetic DisordersAmino Acid Enzymes and MetabolismNeonatal Health and Biochemistry