Concepedia
Biochemical Genetics · 1977 · 61 citations · 10 references
Life SciencesGeneticsMolecular GeneticsBiochemical GeneticsMolecular DiagnosticsEnzyme DeficienciesGenetic DisordersMolecular MarkersMutation AnalysisMutation ScreeningAdenine Nucleotide MetabolismAdenosine Triphosphate MetabolismNicotinamide Phosphoribosyltransferase
10
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
A specific enzyme defect in gout associated with overproduction of uric acid.
William N. Kelley, F M Rosenbloom, Jane Henderson et al. · Proceedings of the National Academy of Sciences · 1967 · 478 citations · Full text
Life Sciences, Biochemistry, Pathobiology +6
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
William N. Kelley, Robert I. Levy, Frederick M. Rosenbloom et al. · Journal of Clinical Investigation · 1968 · 166 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
Assay of hypoxanthine-guanine and adenine phosphoribosyl transferases
Bohdan Bakay, Mary A. Telfer, William L. Nyhan · Biochemical Medicine · 1969 · 55 citations
Life Sciences, Biochemistry, Molecular Biology +5
Adenine phosphoribosyltransferase deficiency in man
Irving H. Fox, Jean C. Meade, William N. Kelley · The American Journal of Medicine · 1973 · 53 citations
Life Sciences, Biochemistry, Genetics +12