200 top medical experts on Adenine phosphoribosyltransferase deficiency across 13 countries and 9 U.S. states, including 16 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Adenine phosphoribosyltransferase deficiency: A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: 2,8-Dihydroxyadenine Urolithiasis, 2,8-Dihydroxyadeninuria, APRT Deficiency, DHA Crystalline Nephropathy, 2,8-Dihydroxyadenine Urolithiasis
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