Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagamani, Svenja Scharre, Joris Probst, Magdalena E. Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka, on behalf of the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group

Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research