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Hypoxanthine guanine phosphoribosyltransferase deficiency

B.L. Davidson, M. Pashmforoush, W.N. Kelley, and T.D. Palella. 1989. Human hypoxanthine-guanine phosphoribosyltransferase deficiency The molecular defect in a patient with gout (HPRTAshville) J. Biol. Chem. 264 520-525. (PubMed)... [Pg.1061]

Lesch-Nyhan syndrome This is a severe form of hypoxanthine-guanine phosphoribosyltransferase deficiency, an enzyme involved in the metabolism of the purine bases (pp. 134-135)... [Pg.63]

E4. Emmerson, B. T., and Wyngaarden, J. B., Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency. Science 166, 1533-1535 (1969). [Pg.240]

Edwards, N.L., Recker, D., and Fox, I.H. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency Contribution by impaired purine salvage. J. Clin. Inves.,... [Pg.23]

PROBLEMS OF DIAGNOSIS IN AN ADOLESCENT WITH HYPOXANTHINE- GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY AND ACUTE RENAL FAILURE... [Pg.10]

L. B. Sorensen. Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. [Pg.15]

HGPRT hypoxanthine guanine phosphoribosyltransferase deficiency PNP purine nucleoside phosphorylase deficiency... [Pg.99]

Kelley, W.N. 1968. Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. Fed. Proc. [Pg.35]

HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY ALTERED KINETIC PROPERTIES OF A SPECIFIC MUTANT FORM OF THE ENZYME... [Pg.167]

X-liiiked hypoxanthine-guanine phosphoribosyltransferase deficiency heterozygote has two clonal populations. [Pg.236]

Willis RC, Jolly DJ, Miller AD, Plent MM, Esty AC, Anderson PJ, Chang HC, Jones OW, Seegmiller JE, Friedmann T. Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. J Biol Chem 1984 259 7842-7849. [Pg.24]

See other pages where Hypoxanthine guanine phosphoribosyltransferase deficiency is mentioned: [Pg.71]    [Pg.240]    [Pg.242]    [Pg.243]    [Pg.246]    [Pg.29]    [Pg.8]    [Pg.36]    [Pg.243]    [Pg.452]    [Pg.290]    [Pg.290]    [Pg.386]   
See also in sourсe #XX -- [ Pg.34 ]

See also in sourсe #XX -- [ Pg.460 ]

See also in sourсe #XX -- [ Pg.526 ]



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9-£>-Hypoxanthines

Guanin

Guanine

Guanine phosphoribosyltransferase deficiency

Hypoxanthin

Hypoxanthine

Hypoxanthine-guanine

Hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine-guanine phosphoribosyltransferase deficiency syndrome

Phosphoribosyltransferase

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