Distinct neurological syndrome in two brothers with hyperuricaemia.
Christen
H J
HJ
Hanefeld
F
F
Duley
J A
JA
Simmonds
H A
HA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics*; D013577:Syndrome; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D012268:Ribose-Phosphate Pyrophosphokinase