The Lesch-Nyhan syndrome.
D002850:Chromatography, Gel; D004586:Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency / Q000302:isolation & purification / Q000378:metabolism
D010430:Pentosyltransferases