. "Unusual presentation of Kelley-Seegmiller syndrome"@en . . "P(NR8361), Z(MSM0021620806), Z(MSM0021620808)" . "8"^^ . "401510" . . . "1525-7770" . "Stolnaja, Larisa" . "[3F9F8C6FD72A]" . . "11110" . "Vernerov\u00E1, Zde\u0148ka" . . . . "Unusual presentation of Kelley-Seegmiller syndrome" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "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) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A>G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that >75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings." . "6"^^ . "RIV/00216208:11110/08:1920!RIV12-MZ0-11110___" . . . "hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency; Lesch-Nyhan disease variants; hyperuricemia; gout"@en . . "8"^^ . . "27" . "Nucleosides, Nucleotides and Nucleic Acids" . "RIV/00216208:11110/08:1920" . "http://dx.doi.org/10.1080/15257770802143863" . . . . . "000257338600021" . . "Unusual presentation of Kelley-Seegmiller syndrome" . . . "H\u0159eb\u00ED\u010Dek, Martin" . . . . "Unusual presentation of Kelley-Seegmiller syndrome"@en . "Rychl\u00EDk, Ivan" . "\u0160ebesta, Ivan" . "Dvo\u0159\u00E1kov\u00E1, Lenka" . "Minks, Jakub" . "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) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A>G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that >75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings."@en . . "Stib\u016Frkov\u00E1, Blanka" . . "6-7" .