Page last updated: 2024-08-18

phosphoribosyl pyrophosphate and Syndrome

phosphoribosyl pyrophosphate has been researched along with Syndrome in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fairbanks, LD; Potter, CF; Simmonds, HA; Webster, DR; Wilson, J1
Bromberg, Y; Feinstein, S; Frishberg, Y; Sperling, O; Zoref-Shani, E1

Other Studies

2 other study(ies) available for phosphoribosyl pyrophosphate and Syndrome

ArticleYear
Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness.
    Advances in experimental medicine and biology, 1984, Volume: 165 Pt A

    Topics: Clinical Laboratory Techniques; Deafness; Erythrocytes; Female; Humans; Infant, Newborn; Kinetics; Male; Nervous System Diseases; Phosphoribosyl Pyrophosphate; Purine-Pyrimidine Metabolism, Inborn Errors; Ribonucleotides; Syndrome; Uric Acid

1984
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
    Biochimica et biophysica acta, 2000, Feb-21, Volume: 1500, Issue:2

    Topics: Acute Kidney Injury; Adenine; Cells, Cultured; Child, Preschool; Culture Media, Conditioned; DNA Mutational Analysis; Fibroblasts; Gout; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Jews; Lymphocytes; Male; Nucleic Acids; Nucleotides; Phosphoribosyl Pyrophosphate; Purines; Syndrome; Uric Acid

2000