Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
Gucev
Z
Z
Koceva
S
S
Marinaki
A
A
Fairbanks
L
L
Kirovski
I
I
Tasic
V
V
D000493:Allopurinol / Q000627:therapeutic use; D000963:Antimetabolites / Q000627:therapeutic use; D017809:Fatal Outcome; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D014527:Uric Acid / Q000097:blood
D000963:Antimetabolites; D014527:Uric Acid; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase