You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Adenine phosphoribosyltransferase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Adenine phosphoribosyltransferase deficiency hub →Adenine phosphoribosyltransferase deficiency is a rare condition. Also known as 2,8-dihydroxyadenine urolithiasis, APRT deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Adenine phosphoribosyltransferase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:976 · OMIM 614723 · ICD-10 E79.8 · GARD 0000546
Start by learning the basics from an authoritative source, find a specialist or center that sees Adenine phosphoribosyltransferase deficiency, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Adenine phosphoribosyltransferase deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Adenine phosphoribosyltransferase deficiency from ClinicalTrials.gov on the hub.