[Lesch-Nyhan syndrome with total deficiency of the enzyme hypoxanthine phosphoribosyltransferase].
Pascual-Castroviejo
I
I
Vélez
A
A
García Puig
J
J
López Jiménez
M
M
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005190:Family; D005192:Family Health; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D008297:Male
D007041:Hypoxanthine Phosphoribosyltransferase
Síndrome de Lesch-Nyhan con déficit total de la enzima HPRT.