Hypoxanthine - Guanine Phosphoribosyl Transferase Deficiency. Our Experience
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4684-3294-7_32
Reference4 articles.
1. SEEGMILLER JE, ROSENBLOOM FM, KELLEY WN. Enzyme defect associated with a sex linked humain neurological disorder and excessive purine synthesis. Science, 152: 1682–1684, 1967.
2. ARNOLD WJ and KELLEY WN. Dietary–Induced Variation of Hypoxanthine–Guanine Phosphoribosyl Transferase activity in patients with Lesh-Nyhan syndrome. J. Clin. Invest., 52: 970–973, 1973.
3. Sweetman L. and Nyhan WL. Further studies of the enzyme composition of mutant cell in X linked uric aciduria. Arch. Intern. Med., 130: 214–220, 1972.
4. KELLEY WN, GREENE ML, ROSENBLOOM FM, HENDERSON JF and SEEGMILLER JE. Hypoxanthine–Guanine phosphoribosyl transferase deficiency in gout. Ann. Intern. Med., 70: 155–206, 1969
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1. Inherited Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase in X-Linked Uric Aciduria (the Lesch-Nyhan Syndrome and Its Variants);Advances in Human Genetics 6;1976
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