Results 1 - 10 of 13

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• Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry, Laboratory Guide to the Methods in Biochemical Genetics

  [DOI: 10.1007/978-3-540-76698-8_31]
  
• A Korean Case of ??-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly, JIMD Reports, Volume 19

  [DOI: 10.1007/8904_2014_379]
  
• Homology and Mutagenesis Studies of Hamster Dihydroorotase, Purine and Pyrimidine Metabolism in Man VIII

  [DOI: 10.1007/978-1-4615-2584-4_124]
  
• Simple Method for the Quantitative Analysis of Dihydropyrimidines and N-Carbamyl-??-Amino Acids in Urine, Purine and Pyrimidine Metabolism in Man VII

  [DOI: 10.1007/978-1-4615-7703-4_4]
  
• Beta-ureidopropionase, Enzyme Handbook 4

  [DOI: 10.1007/978-3-642-84437-9_124]
  
• 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

  [DOI: 10.1007/s10545-014-9682-y]
  
• Detection of ??-ureidopropionase deficiency with HPLCu2013electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level, Journal of Inherited Metabolic Disease

  [DOI: 10.1023/A:1012997406132]
  
• Solid-Phase Catalytic Hydrogenation of Uracil with Tritium: Synthesis of Tritium-Labeled ??-Alanine, Radiochemistry

  [DOI: 10.1023/A:1020367009597]
  
• Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria, Journal of Inherited Metabolic Disease

  [DOI: 10.1023/A:1005309423960]
  
• 1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism, Journal of Inherited Metabolic Disease

  [DOI: 10.1023/A:1005313524869]