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7Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry, Laboratory Guide to the Methods in Biochemical Genetics A Korean Case of ??-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly, JIMD Reports, Volume 19 Clinical, biochemical and molecular analysis of 13 Japanese patients with ??-ureidopropionase deficiency demonstrates high prevalence of the c.977G A (p.R326Q) mutation, Journal of Inherited Metabolic Disease Detection of ??-ureidopropionase deficiency with HPLCu2013electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level, Journal of Inherited Metabolic Disease Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria, Journal of Inherited Metabolic Disease Slomka, C.; Engel, U.; Syldatk, C.; Rudat, J..
Synthesis of l-β-Phenylalanine, Science of Synthesis: Biocatalysis in Organic Synthesis, (2015) 1, 403.