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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity by Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Maurer, Dirk (Author) , Monavari, Ardeshir A. (Author) , Gummesson, Anders (Author) , Reims, Annika (Author) , Cayuela, Jorge A. (Author) , Kuklina, Natalia (Author) , Benoist, Jean-François (Author) , Perrin, Laurence (Author) , Assmann, Birgit (Author) , Hoffmann, Georg F. (Author) , Bierau, Jörgen (Author) , Kaindl, Angela M. (Author) , van Kuilenburg, André B. P. (Author) ,

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Dihydropyrimidinase deficiency: phenotype, genotype and structural consequences in 17 patients by Kuilenburg, André van (Author) , Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Benoist, Jean-François (Author) , Assmann, Birgit (Author) , Schubert-Bast, Susanne (Author) , Hoffmann, Georg F. (Author) , Duran, Marinus (Author) , de Vries, Maaike C. (Author) , Kurlemann, Gerd (Author) , Eyskens, François J. M. (Author) , Greed, Lawrence (Author) , Sass, Jörn Oliver (Author) , Schwab, K. Otfried (Author) , Sewell, Adrian C. (Author) , Walter, John (Author) , Hahn, Andreas (Author) , Zoetekouw, Lida (Author) , Ribes, Antonia (Author) , Lind, Suzanne (Author) , Hennekam, Raoul C. M. (Author) ,

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