X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defect
- 31 December 1968
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 73 (6), 920-922
- https://doi.org/10.1016/s0022-3476(68)80250-1
Abstract
No abstract availableKeywords
This publication has 4 references indexed in Scilit:
- Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism: Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of goutThe Journal of Pediatrics, 1968
- 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 SynthesisScience, 1967
- A familial disorder of uric acid metabolism and central nervous system functionAmerican Journal Of Medicine, 1964