[Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].
D000328:Adult; D004912:Erythrocytes / Q000201:enzymology*; D006580:Genetic Carrier Screening; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism*; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D008297:Male; D010375:Pedigree; D012652:Self Mutilation / Q000209:etiology
D007041:Hypoxanthine Phosphoribosyltransferase
Síndrome de Lesch-Nyhan: nueva variante con actividad de hipoxantina-guanina fosforribosil transferasa (HPRT) superior a la de la enfermedad clásica y detección del rasgo heterocigoto en los hematíes de la portadora.