Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea Gropman, Sandesh C.S. Nagamani, Svenja Scharré, Joris Probst, Magdalena Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka
Topics & Concepts
Urea cycleCytosolNewborn screeningUreaMedicineInternal medicinePhysiologyEndocrinologyChemistryPediatricsBiochemistryEnzymeAmino acidArginineMetabolism and Genetic DisordersHyperglycemia and glycemic control in critically ill and hospitalized patientsGenomics and Rare Diseases