| 1 |
30423175 | Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. | 2018 Jul 1 |
2 |
| 2 |
26089585 | Association of PRPS1 Mutations with Disease Phenotypes. | 2015 |
1 |
| 3 |
22246954 | Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. | 2012 Feb |
2 |
| 4 |
20380929 | PRPS1 mutations: four distinct syndromes and potential treatment. | 2010 Apr 9 |
1 |
| 5 |
17701896 | Arts syndrome is caused by loss-of-function mutations in PRPS1. | 2007 Sep |
1 |
| 6 |
12847698 | Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. | 2003 Jul |
1 |