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C. Bruyn (1976)
Hypoxanthine-guanine phosphoribosyl transferase deficiency.Human genetics, 31 2
I. Fox, I. Dwosh, P. Marchant, S. Lacroix, M. Moore, S. Ōmura, V. Wyhofsky (1975)
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.The Journal of clinical investigation, 56 5
B. Bakay, W. Nyhan (1975)
Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes.Archives of biochemistry and biophysics, 168 1
Geerdink (1973)
An atypical case of hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome)Clin. Genet., 4
P. Benke, N. Herrick, A. Herbert (1973)
Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.Biochemical medicine, 8 2
O. Lowry, N. Rosebrough, A. Farr, R. Randall (1951)
Protein measurement with the Folin phenol reagent.The Journal of biological chemistry, 193 1
(1970)
transferase deficiency in gout
K. Upchurch, A. Leyva, W. Arnold, E. Holmes, W. Kelley (1975)
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.Proceedings of the National Academy of Sciences of the United States of America, 72 10
Willers (1975)
Rapid determination of hypoxanthine-guanine phosphoribosyl transferase in human fibroblasts and amniotic cellsHum. Genet., 27
B. Bakay, W. Nyhan (1972)
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.Proceedings of the National Academy of Sciences of the United States of America, 69 9
(1970)
Hypoxanthine - guanine phosphoribosyl transferase deficiency : Activity in normal , mutant and heterozygote cultured human skin fibroblasts
Kogut (1970)
Disorder in purine metabolism due to partial deficiency of hypo-xanthine-guanine phosphoribosyl transferaseA study of a family. Ainer. J. Med., 48
M. Kogut, G. Donnell, W. Nyhan, L. Sweetman (1970)
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.The American journal of medicine, 48 2
M. Lesch, W. Nyhan (1964)
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.The American journal of medicine, 36
G. Ghangas, G. Milman (1975)
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.Proceedings of the National Academy of Sciences of the United States of America, 72 10
C. Bruyn, T. Oei, R. Geerdink, E. Lommen (1973)
An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome)Clinical Genetics, 4
W. Kelley, M. Greene, F. Rosenbloom, J. Henderson, J. Seegmiller (1969)
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in GoutAnnals of Internal Medicine, 70
Kelley (1971)
Studies on hypoxanthine-guanine phosphoribosyl transferase in fibroblasts from patients with the Lesch-Nyhan syndromeJ. biol. Chem., 243
Fujimoto Wy, Seegmiller Je (1970)
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.Proceedings of the National Academy of Sciences of the United States of America, 65 3
DeMars (1972)
The spontaneous azaguanine-resistant mutants of diploid human fibroblastsHum. Genet., 16
P. Benke, N. Herrick, A. Hebert (1973)
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.The Journal of clinical investigation, 52 9
K. Raivio, E. Seegmiller (1973)
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.Biochimica et biophysica acta, 299 2
(1964)
A familiar disorder of uric acid metabolism and central nervous system function
Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyhan syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyhan syndrome were investigated. Cells from patients with the Lesch-Nyhan syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8-azaguanine up to 10-3 M, whereas cells of patients with partial H-PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8-azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch-Nyhan syndrome and patients with variant H-PRT mutations showed activation of the deficient or partially deficient H-PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H-PRT could be associated with the cell membranes.
Clinical Genetics – Wiley
Published: Feb 1, 1977
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