Beta-ureidopropionase deficiency
Definition:
References:
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[1]. B Assmann, et al. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics. 2006 Feb;37(1):20-5. [Content Brief]
[2]. J Yaplito-Lee, et al. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Mol Genet Metab. 2008 Feb;93(2):190-4. [Content Brief]
[3]. William L Nyhan, et al. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. [Content Brief]
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