Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Jurecka, Agnieszka ^a   Stiburkova, Blanka ^b   Krijt, Jakub ^b   Gradowska, Wanda ^a   Tylki Szymanska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; BIOLOGICAL MARKER; URIC ACID; XANTHINE DEHYDROGENASE; DIAGNOSTIC AGENT;

AGED; ARTHRITIS, RHEUMATOID; BLOOD; CASE REPORT; COMPLICATION; DEFICIENCY; DIAGNOSTIC USE; ENZYMOLOGY; EXON; FEMALE; GENE DELETION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; KIDNEY CALCIFICATION; METABOLISM, INBORN ERRORS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; URINE; ARTICLE; INBORN ERROR OF METABOLISM; METHODOLOGY; RHEUMATOID ARTHRITIS;

AGED; ALLOPURINOL; ARTHRITIS, RHEUMATOID; BIOLOGICAL MARKERS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; NEPHROCALCINOSIS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SEQUENCE DELETION; URIC ACID; XANTHINE DEHYDROGENASE;

EID: 73849097733     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9011-z     Document Type: Article

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