Abstract
Thirteen cases of total partial HGPRTase deficiency have been detected at the Rheumatology Clinic of Hopital Cochin (Paris) since Seegmiller, Rosenbloom and Kelley ( 1 ) described this enzymatic abnormality.
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References
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.
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.
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.
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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© 1974 Plenum Press, New York
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Amor, B., Delbarre, F., Auscher, C., de Gery, A. (1974). Hypoxanthine - Guanine Phosphoribosyl Transferase Deficiency. Our Experience. In: Sperling, O., De Vries, A., Wyngaarden, J.B. (eds) Purine Metabolism in Man. Advances in Experimental Medicine and Biology, vol 41A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-3294-7_32
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DOI: https://doi.org/10.1007/978-1-4684-3294-7_32
Publisher Name: Springer, Boston, MA
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