Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme

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

Michael Lesch, William L. Nyhan · The American Journal of Medicine · 1964 · 1.5K citations

Life Sciences, Neurology, Neuroscience +9

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

J. Edwin Seegmiller, Frederick M. Rosenbloom, William N. Kelley · Science · 1967 · 1.2K citations

Life Sciences, Biochemistry, Neurology +14

Human Hypoxanthine Phosphoribosyltransferase

Thomas A. Krenitsky, R Papaioannou, Gertrude B. Elion · Journal of Biological Chemistry · 1969 · 237 citations · Full text

Life Sciences, Biochemistry, Cellular Metabolism +8

Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome

William L. Nyhan, Bohdan Bakay, James D. Connor et al. · Proceedings of the National Academy of Sciences · 1970 · 209 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Barbara R. Migeon, Vazken M. Der Kaloustian, William L. Nyhan et al. · Science · 1968 · 194 citations

Life Sciences, Genetics, Molecular Genetics +13