Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants

Current Rheumatology Reports

Volumn 14, Issue 2, 2012, Pages 189-194

  Torres, Rosa J ^a   Puig, Juan G ^a   Jinnah, H A ^b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Crystal arthritis; Gout; Inborn errors of metabolism; Lesch Nyhan disease; Nephrolithiasis; Phenotypic spectrum; Treatment; Uric acid; Variants

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; ADENOSINE KINASE; ALLOPURINOL; COLCHICINE; FERBUXOSTAT; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; NONSTEROID ANTIINFLAMMATORY AGENT; PURINE DERIVATIVE; PURINE NUCLEOTIDE; RASBURICASE; UNCLASSIFIED DRUG; URIC ACID; XANTHINE OXIDASE;

ARTICLE; AUTOMUTILATION; CLINICAL FEATURE; COGNITIVE DEFECT; DISABILITY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME INHIBITION; GENE; GENE MUTATION; GENETIC VARIABILITY; GOUT; HPRT GENE; HUMAN; HYPERURICEMIA; LESCH NYHAN SYNDROME; MOLECULAR DYNAMICS; NEPHROLITHIASIS; OUTCOME ASSESSMENT; PATHOGENESIS; PHENOTYPE; PROTEIN DEGRADATION; PURINE METABOLISM;

GOUT; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; SELF-INJURIOUS BEHAVIOR;

EID: 84860839465     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-011-0231-5     Document Type: Article

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