Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfu…

AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more

~Estimated

~$10 – $675

National Human Genome Research Institute (NHGRI)NCT06092346

Prospective Research Rare Kidney Stones (ProRKS)

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluri…

HyperoxaluriaCystinuriaDent Disease+2 more

~Estimated

~$10 – $750

Mayo ClinicNCT02780297