Results 151 to 160 of about 24,062 (183)

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

New England Journal of Medicine, 1983
A DEFICIENCY in the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) is associated with two clinical syndromes.
Jeffrey S. Flier, Mary Jean Moore, James M. Wilson, Anne B. Young, William N. Kelley   +4 more
openaire   +2 more sources

Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies

1995
Complete deficiency of HPRT causes the Lesch-Nyhan syndrome (LNS) which is characterized by hyperuricemia, mental retardation, choreoathetosis, and compulsive self-mutilation. Partial deficiency of HPRT leads to a severe form of gout and nephrolithiasis. In contrast to the Lesch-Nyhan syndrome it has been proposed to designate this as Kelley-Seegmiller
R, Burgemeister, W, Gutensohn, G, Van den Berghe, J, Jaeken   +3 more
openaire   +2 more sources

The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency

2006
Summary The enzyme hypoxanthine-guanine phosphoribo-syltransferase (HPRT) catalyzes the reutilization ofhypoxanthine and guanine to the purine nucleotidesIMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid over-production and variable neurologic impairment.
J G, Puig, R J, Torres, F A, Mateos, T, Ramos, A S, Buno, J, Arcas   +5 more
openaire   +2 more sources

Properties of Erythrocyte Purine Phosphoribosyltransferases in Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

1974
Partial deficiency of HGPRT, a salvage enzyme of purine metabolism, has been demonstrated to be the primary abnormality causing purine overproduction in a small proportion of patients with gout (1–4). The quantitative deviation in the activity of this enzyme has been shown by Kelley et al.
O, Sperling, P, Boer, A, De Vries
openaire   +2 more sources

Hypoxanthine–guanine phosphoribosyltransferase: further evidence for the identity of the binding sites for hypoxanthine and guanine

Canadian Journal of Biochemistry, 1969
Isotope exchange between hypoxanthine and both inosinate and guanylate, and between guanine and the same two ribonucleotides, support the view that hypoxanthine and guanine bind to the same site on hypoxanthine-guanine phosphoribosyltransferase.
openaire   +2 more sources

Xanthine phosphoribosyltransferase in man: Relationship to hypoxanthine-guanine phosphoribosyltransferase

Biochemical and Biophysical Research Communications, 1967
W N, Kelley, F M, Rosenbloom, J F, Henderson, J E, Seegmiller   +3 more
openaire   +2 more sources

Hypoxanthine phosphoribosyltransferase

1996
Dietmar Schomburg, Dörte Stephan
openaire   +1 more source

Steady-state kinetics of the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi

Biochimica Et Biophysica Acta - Proteins and Proteomics, 2004
Fj Medrano, Sydney P Craig, Ann E Eakin
exaly  

Oligomeric state of hypoxanthine−guanine phosphoribosyltransferase from Mycobacterium tuberculosis

Biochimie, 2017
Donald Winzor, Luke Guddat, Dana Hocková   +2 more
exaly  

Hypoxanthine-guanine, phosphoribosyltransferase

2011
openaire   +1 more source