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Keywords: Kelley-Seegmiller Syndrome
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Urol Int (2019) 102 (2): 233–237.
Published Online: 01 November 2018
...Julián Chavarriaga; Maria Ocampo; Nayib Fakih; José Silva Herrera Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting...