Lesch-Nyhan syndrome: clinical diagnosis and confirmation by biochemical and genetic methods.
Erhard
U
U
Herkenrath
P
P
Benz-Bohm
G
G
Querfeld
U
U
D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D014463:Ultrasonography