[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?].
D000293:Adolescent; D000328:Adult; D002648:Child; D006073:Gout / Q000150:complications / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009461:Neurologic Manifestations; D010375:Pedigree
D007041:Hypoxanthine Phosphoribosyltransferase
Goutte juvénile familiale par déficit partiel en HGPRT avec troubles neurologiques; forme dégradée de syndrome de Lesch-Nyhan?