ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

André B.P. Van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Michael Krumpel, Laila A. Selim, Mohamed S. Rashed, Birgit Assmann, Rutger Meinsma, Bernhard Lohkamp, Tetsuya Ito, Nico G.G.M. Abeling, Kayoko Saito, Kaoru Eto, Martin Smitka, Martin Engvall, Chunhua Zhang, Wang Xu, Lida Zoetekouw, Raoul C.M. Hennekam

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25 Citations (Scopus)

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Medicine & Life Sciences