Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

This publication has 11 references indexed in Scilit:

• Lesch-Nyhan Syndrome: Altered Kinetic Properties of Mutant Enzyme
  Science, 1971
• Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin Fibroblasts
  Proceedings of the National Academy of Sciences, 1970
• Effects of allopurinol and oxipurinol on purine synthesis in cultured human cells
  Journal of Clinical Investigation, 1970
• Evidence against the existence of guanosine and inosine kinases in human fibroblasts in tissue culture
  Experimental Cell Research, 1969
• Inhibition of 5′-nucleotidase from Ehrlich ascites-tumour cells by nucleoside triphosphates
  Biochemical Journal, 1969
• Formation of Inosine-5'-Monophosphate by a Kinase in Cell-Free Extracts of Ehrlich Ascites Cells in Vitro
  Experimental Biology and Medicine, 1968
• Inherited Disorder of Purine Metabolism
  Published by American Medical Association (AMA) ,1967
• A specific enzyme defect in gout associated with overproduction of uric acid.
  Proceedings of the National Academy of Sciences, 1967
• Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
  Science, 1967
• A familial disorder of uric acid metabolism and central nervous system function
  The American Journal of Medicine, 1964