β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. - Dobritzsch, Doreen; Meijer, Judith; Meinsma, Rutger; Maurer, Dirk; Monavari, Ardeshir A.; Gummesson, Anders; Reims, Annika; Cayuela, Jorge A.; Kuklina, Natalia; Benoist, Jean-François; Perrin, Laurence; Assmann, Birgit; et al. (Molecular Genetics & Metabolism, 2022)