Hypoxanthine-guanine phosphoribosyltransferase deficiency: Biochemical and molecular findings in six Argentine patients

Nucleosides, Nucleotides and Nucleic Acids

Volumn 26, Issue 3, 2007, Pages 255-258

  Larovere L E ^a   O'Neill, J P ^b   Randall, M ^b   Fairbanks, L D ^c   Guelbert, N ^a   Czornyj, L ^d   De Kremer, R Dodelson ^a  

^a Hospital of Nino Jesus   (Argentina)

^b UNIVERSITY OF VERMONT   (United States)

^c GUY S HOSPITAL   (United Kingdom)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

HPRT; HPRT mutation; Hypoxanthine guanine phosphoribosyltransferase deficiency; Lesch Nyhan disease; Lesch Nyhan variant

Indexed keywords

HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID; XANTHINE;

ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LESCH NYHAN SYNDROME; URIC ACID URINE LEVEL; URINARY EXCRETION;

ARGENTINA; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; GERM-LINE MUTATION; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; METABOLISM, INBORN ERRORS; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 34147188524     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770701257269     Document Type: Article

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