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1. Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J,Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A,Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB. Clinical, biochemical andmolecular analysis of 13 Japanese patients with β-ureidopropionase deficiencydemonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y.
2. van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS,Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M,Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC. ß-ureidopropionasedeficiency: phenotype, genotype and protein structural consequences in 16patients. Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi:10.1016/j.bbadis.2012.04.001.
3. van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, LorenteI, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8.
4. van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH.beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradationassociated with neurological abnormalities. Hum Mol Genet. 2004 Nov15;13(22):2793-801.