Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

Purines and Pyrimidines

1961 • 250 citations

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

1984 • 102 citations

Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism

1978 • 48 citations

The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LAZ-007 synchronised by centrifugal elutriation

1980 • 45 citations

Urinary purines and pyrimidines in patients with hyperammonemia of various origins

1980 • 34 citations

Gas chromatography of urinary N-phenylacetylglutamine

1979 • 33 citations

Linear relationship between the R- and S-enantiomers of β-aminoisobutyric acid in human urine

1981 • 30 citations

Purines and Pyrimidines

1970 • 30 citations

Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.

1979 • 29 citations

New Defects of Pyrimidine Metabolism

1984 • 26 citations

Purine Metabolism in Man—II. Regulation of Pathways and Enzyme Defects.

1977 • 25 citations

Urinary Purines in a Patient with a Severely Defective T Cell Immunity and a Purine Nucleoside Phosphorylase Deficiency

1977 • 16 citations

Reduction of thymine by leukocytes

1968 • 10 citations

[Screening for disorders of purine and pyrimidine metabolism].

1982 • 6 citations