Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase

Arthritis and Rheumatism

Volumn 60, Issue 7, 2009, Pages 2201-2204

  Ea, Hang Korng ^a   Bardin, Thomas ^a   Jinnah, H A ^b   Aral, Bernard ^c   Lioté, Frédéric ^a   Ceballos Picot, Irène ^c  

^a INSERM   (France)

^b EMORY UNIVERSITY   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; CYSTEINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MUTANT PROTEIN; NONSTEROID ANTIINFLAMMATORY AGENT; PHENYLALANINE;

ADULT; AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DYSARTHRIA; DYSTONIA; ENZYME ACTIVITY; GAIT DISORDER; GENE; GOUT; HPRT GENE; HUMAN; HYPERURICEMIA; MALE; NEPHROLITHIASIS; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

ADULT; ARTHRITIS, GOUTY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION; NEPHROLITHIASIS; NERVOUS SYSTEM DISEASES;

EID: 67650090909     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24617     Document Type: Article

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