title: Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
authors.forename: Z
authors.initials: Z
authors.lastname: Gucev
authors.forename: S
authors.initials: S
authors.lastname: Koceva
authors.forename: A
authors.initials: A
authors.lastname: Marinaki
authors.forename: L
authors.initials: L
authors.lastname: Fairbanks
authors.forename: I
authors.initials: I
authors.lastname: Kirovski
authors.forename: V
authors.initials: V
authors.lastname: Tasic
mesh_terms: 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
chemical_list: D000963:Antimetabolites; D014527:Uric Acid; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase