Inborn Errors of Purine and Pyrimidine Metabolism

A familial disorder of uric acid metabolism and central nervous system function

1964 • 1,448 citations

The Metabolic Basis of Inherited Disease.

1972 • 1,407 citations

A specific enzyme defect in gout associated with overproduction of uric acid.

1967 • 477 citations

Lethality of adenosine for cultured mammalian cells by interference with pyrimidine biosynthesis

1973 • 248 citations

Phosphoribosylpyrophosphate in Man: Biochemical and Clinical Significance

1971 • 219 citations

Prenatal Genetic Diagnosis

1970 • 176 citations

Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism

1968 • 168 citations

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1971 • 149 citations

PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA*

1961 • 122 citations

A Review: Biological and Clinical Aspects of Pyrimidine Metabolism

1974 • 85 citations

Prophylactic Effect of L-5-Hydroxytryptophan on Self-Mutilation in the Lesch-Nyhan Syndrome

1975 • 71 citations

Pyrimidine Metabolism in Man

1973 • 67 citations

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1970 • 64 citations

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

1974 • 54 citations

Mechanism of allopurinol-mediated increase in enzyme activity in man

1972 • 47 citations

HEREDITARY OROTIC ACIDURIA

1968 • 40 citations

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome

1972 • 39 citations

Hyperuricemia and Mental Retardation

1967 • 39 citations

Hereditary orotic aciduria: Types I and II

1973 • 34 citations

Abnormal orotic acid metabolism associated with acute hyperammonaemia in the rat

1974 • 32 citations

Plasma uric acid levels in children.

1969 • 31 citations

Increased activity of two enzymes of pyrimidine biosynthesis de novo in erythrocytes from patients with the Lesch-Nyhan syndrome.

1973 • 24 citations

Uric acid levels in full-term and low-birth-weight infants

1968 • 18 citations

Oxipurinol and orotic aciduria: Effect on the orotidine-5′-monophosphate decarboxylase activity of cultured human fibroblasts

1974 • 17 citations

Hereditary orotic aciduria: results of a screening survey.

1975 • 10 citations

Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome

1973 • 8 citations

Orotic Acid

1973 • 7 citations