Posts Categorized: Part 11: PURINES AND PYRIMIDINES



New phenotype associated with phosphoribosyl pyrophosphate synthetase 1 deficiency

Posted by & filed under Exome sequencing, Part 11: PURINES AND PYRIMIDINES.

Al-Maawali A et al. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. European Journal of Human Genetics (2015) 23, 310–316.   Phosphoribosyl pyrophosphate synthetase 1 (PRS-1) catalyses the first step of purine synthesis, and several X-linked disorders have been associated with both its deficiency (Arts syndrome, […]