Unusual presentation of Kelley-Seegmiller syndrome

Nucleosides, Nucleotides and Nucleic Acids

Volumn 27, Issue 6-7, 2008, Pages 648-655

  Sebesta, I ^a,b   Stiburkova B ^a   Dvorakova, L ^a   Hrebicek, M ^a   Minks, J ^a   Stolnaja, L ^a   Vernerova, Z ^b   Rychlik, I ^b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Gout; Hyperuricemia; Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency; Lesch Nyhan disease variants

Indexed keywords

ALLOPURINOL; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; XANTHINE;

ADULT; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; FEMALE; GENE MUTATION; GOUT; HUMAN; HYPERURICEMIA; KELLEY SEEGMILLER SYNDROME; LABORATORY TEST; LESCH NYHAN SYNDROME; MALE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; URIC ACID BLOOD LEVEL; X CHROMOSOME;

ADULT; ALLELES; FEMALE; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PURINES; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 46749148340     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802143863     Document Type: Conference Paper

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