Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

This publication has 6 references indexed in Scilit:

• Dihydropyrimidine Dehydrogenase Activity in Human Blood Mononuclear Cells
  Enzyme, 1989
• Purification and properties of 5,6‐dihydropyrimidine amidohydrolase from calf liver
  European Journal of Biochemistry, 1989
• Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.
  Journal of Clinical Investigation, 1988
• Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1986
• Dihydropyrimidine dehydrogenase deficiency leading to thymine‐uraciluria. An inborn error of pyrimidine metabolism
  Journal of Inherited Metabolic Disease, 1985
• Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1984