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Keywords: Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
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Journal Articles
Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?
Available to PurchaseSubject Area:
Further Areas
Journal:
Urologia Internationalis
Urol Int (2019) 102 (2): 233–237.
Published Online: 01 November 2018
... with uric acid lithiasis to ensure that this condition no longer remains in the dark. The patient in this manuscript has given his full written and verbal consent to publish photos and details of the case. Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial HPRT1 Deficiency...