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Article

Unusual presentation of Kelley-Seegmiller syndrome.

Nucleosides, nucleotides & nucleic acids - 1 Jun 2008

Sebesta I, Stiburková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I

Abstract excerpt

Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg (-1)...

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PMID: 18600521
DOI: 10.1080/15257770802143863

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Unusual presentation of Kelley-Seegmiller syndrome.PMID 18600521Read ↗

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