Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency
- 31 October 1986
- journal article
- case report
- Published by Elsevier BV in Pediatric Neurology
- Vol. 2 (5), 302-304
- https://doi.org/10.1016/0887-8994(86)90025-1
Abstract
No abstract availableKeywords
This publication has 4 references indexed in Scilit:
- Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1986
- Hypoxanthine‐guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activityJournal of Inherited Metabolic Disease, 1981
- 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