1. A familial disorder of uric acid metabolism and central nervous system function;Lesch;Am. J. Med.,1964
2. An enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis;Seegmiller;Science,1967
3. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout;Kelley;Ann. Intern. Med.,1969
4. B.J.F. Rossiter, C.T. Caskey, Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, 7th edn., McGraw-Hill, New York, 1995, pp. 1679–1706.
5. W.N. Kelley, J.B. Wyngaarden, Clinical syndromes associated with hypoxanthine-guanine phosphoribosyltransferase deficiency, in: J.B. Stanbury, J.B. Wyngaarden, D.S. Frederickson, J.L. Goldstein, M.S. Brown (Eds.), The Metabolic Basis of Inherited Disease, 5th edn., McGraw-Hill, New York, 1983, pp. 1115–1143.