Results 261 to 270 of about 51,551 (285)

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

Design of Plasmodium vivax Hypoxanthine-Guanine Phosphoribosyltransferase Inhibitors as Potential Antimalarial Therapeutics.

ACS Chemical Biology, 2017
D. Keough, D. Rejman, R. Pohl, Eva Zborníková, D. Hocková, T. Croll, M. Edstein, G. Birrell, M. Chavchich, L. Naesens, G. Pierens, I. Brereton, L. Guddat   +12 more
semanticscholar   +1 more source

Synthesis and Evaluation of Asymmetric Acyclic Nucleoside Bisphosphonates as Inhibitors of Plasmodium falciparum and Human Hypoxanthine-Guanine-(Xanthine) Phosphoribosyltransferase.

Journal of Medicinal Chemistry, 2017
P. Spacek, D. Keough, M. Chavchich, M. Dračínský, Z. Janeba, L. Naesens, M. Edstein, L. Guddat, D. Hocková   +8 more
semanticscholar   +1 more source

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.

Clinica chimica acta; international journal of clinical chemistry, 2015
E. Košťálová, K. Pavelka, H. Vlášková, D. Mušálková, B. Stibůrková   +4 more
semanticscholar   +1 more source

Kinetic mechanism of Plasmodium falciparum hypoxanthine-guanine-xanthine phosphoribosyltransferase.

Molecular and biochemical parasitology (Print), 2015
S. Roy, L. Nagappa, Vasudeva S Prahladarao, H. Balaram   +3 more
semanticscholar   +1 more source

Hypoxanthine phosphoribosyltransferase

1996
Dietmar Schomburg, Dörte Stephan
openaire   +1 more source

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

Expression of transformation in cell hybrids. I. Isolation and application of density-inhibited Balb/3T3 cells deficient in hypoxanthine phosphoribosyltransferase and resistant to ouabain

Somatic Cell Genetics, 1976
K. Jha, H. Ozer
semanticscholar   +1 more source

Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates.

Science, 1977
G. Ghangas, G. Milman
semanticscholar   +1 more source

Erythrocyte nucleotide variations in hypoxanthine phosphoribosyltransferase deficiency

Journal of Inherited Metabolic Disease, 1991
R A, Harkness, G M, McCreanor
openaire   +2 more sources