Inheritance of purine phosphoribosyltransferases in man.

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

1961 • 3,881 citations

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1967 • 1,210 citations

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

1967 • 477 citations

X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

1968 • 195 citations

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

1967 • 172 citations

Hereditary Choreoathetosis, Self-Mutilation and Hyperuricemia in Young Males

1965 • 103 citations

Genetic Tests with a Sex-Linked Marker: Glucose-6-Phosphate Dehydrogenase

1964 • 97 citations

X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With Hyperuricemia

1966 • 52 citations

Detection of Glucose-6-Phosphate Dehydrogenase Deficient Heterozygotes

1967 • 31 citations

Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases

1968 • 25 citations