Distinct neurological syndrome in two brothers with hyperuricaemia

This publication has 9 references indexed in Scilit:

• Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness
  The American Journal of Medicine, 1988
• Phosphoribosylpyrophosphate synthetase superactivity: A study of five patients with catalytic defects in the enzyme
  Arthritis & Rheumatism, 1986
• An Inborn Error of Purine Metabolism, Deafness and Neurodevelopmental Abnormality
  Neuropediatrics, 1985
• AN X-LINKED SYNDROME CHARACTERISED BY HYPERURICAEMIA, DEAFNESS, AND NEURODEVELOPMENTAL ABNORMALITIES
  The Lancet, 1982
• Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.
  Journal of Clinical Investigation, 1980
• Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity
  The American Journal of Medicine, 1973
• Hyperuricemia and Neurologic Deficits
  New England Journal of Medicine, 1970
• A new disorder of purine metabolism with behavioral manifestations
  The Journal of Pediatrics, 1969
• A familial disorder of uric acid metabolism and central nervous system function
  The American Journal of Medicine, 1964