Results 201 to 210 of about 34,291 (223)

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

Transport of hypoxanthine by human diploid skin fibroblasts deficient in hypoxanthine-guanine phosphoribosyltransferase

Experimental Cell Research, 1977
Summary Transport of purine bases and nucleosides by a variety of mammalian cell lines is generally accomplished by facilitated diffusion, a non-concentrative, saturable process. However, previous investigators have been unable to detect a saturable component for the transport of hypoxanthine by human fibroblasts deficient in hypoxanthine-guanine ...
E, Murphy, M J, Holland, R P, Cox
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

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

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

Molecular characterization and overexpression of the hypoxanthine-guanine phosphoribosyltransferase gene from

Molecular and Biochemical Parasitology, 1994
Buddy Ullman, B Ullman
exaly  

Purification of hypoxanthine-guanine phosphoribosyltransferase of

Molecular and Biochemical Parasitology, 1987
Irwin W Sherman
exaly  

Purification and characterization of the adenine phosphoribosyltransferase and hypoxanthine-guanine phosphoribosyltransferase activities from

Molecular and Biochemical Parasitology, 1989
Buddy Ullman, Terry Coons, B Ullman
exaly