Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P00492 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,385
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The existence of a clinically typical
Lesch-Nyhan syndrome
was observed in a male infant with
18q deletion syndrome
. Indirect hypoxanthine-guanine-phosphoribosyl transferase activity determination demonstrated a normal value, and thus the possibility of
Lesch-Nyhan syndrome
linked to the X-chromosome may be excluded. It is assumed that the uric acid metabolism must be under the primary or secondary effect of one or other of the gene loci on the long arm of chromosome 18, since the existence off a hyperuricaemic syndrome was observed in this 18q deletion patient.
...
PMID:Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome? 697 10
